(used for variant description)
(last modified May 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_015690.4 in the STK36 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029739.1, covering STK36 transcript NM_015690.4.
(upstream sequence)
. . . g.5039
aaaactaagaggggtgggcagctagcgtcgtttctaggc c.-241
. . . . . . g.5099
aaccgcagactccgggtccttagccgggcctgatggccctgaggcagttcggatgtgtcc c.-181
. . . . . . g.5159
caggaagtgcccatgtgtggtccgccgtccattccacacctctgagcgcctttgtcctct c.-121
. . . . | 02 . . g.5744
gaacttctcaccagttctagcgagtaaaatt | gcgtcccagatgttgtggaactgtccctg c.-61
. . . . . . g.5804
gatctatagctcttcaccgtctctactttcttccttctaagagatcctgaaacctctgtc c.-1
. . . . . . g.5864
ATGGAAAAGTACCACGTGTTGGAGATGATTGGAGAAGGCTCTTTTGGGAGGGTGTACAAG c.60
M E K Y H V L E M I G E G S F G R V Y K p.20
. . | 03 . . . . g.6635
GGTCGAAGAAAATACAGTGCTCAG | GTCGTGGCCCTGAAGTTCATCCCAAAATTGGGGCGC c.120
G R R K Y S A Q | V V A L K F I P K L G R p.40
. . . . . . g.6695
TCAGAGAAGGAGCTGAGGAATTTGCAACGAGAGATTGAAATAATGCGGGGTCTGCGGCAT c.180
S E K E L R N L Q R E I E I M R G L R H p.60
. . . . | 04 . . g.6868
CCCAACATTGTGCATATGCTTGACAGCTTTGAAACTGATAAAGAG | GTGGTGGTGGTGACA c.240
P N I V H M L D S F E T D K E | V V V V T p.80
. . . . . . g.6928
GACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGAC c.300
D Y A E G E L F Q I L E D D G K L P E D p.100
| 05 . . . . . . g.8374
CAG | GTTCAGGCCATTGCTGCCCAGTTGGTGTCAGCCCTGTACTATCTGCATTCCCACCGC c.360
Q | V Q A I A A Q L V S A L Y Y L H S H R p.120
. . . . . . g.8434
ATCCTACACCGAGATATGAAGCCTCAGAACATCCTCCTCGCCAAGGGTGGTGGCATCAAG c.420
I L H R D M K P Q N I L L A K G G G I K p.140
. | 06 . . . . . g.9049
CTCTGTGACTTTGG | ATTTGCCCGGGCTATGAGCACCAATACAATGGTGCTGACATCCATC c.480
L C D F G | F A R A M S T N T M V L T S I p.160
. . . . . . g.9109
AAAGGCACACCACTCTATATGTCTCCAGAGCTGGTGGAGGAGCGACCATACGACCACACA c.540
K G T P L Y M S P E L V E E R P Y D H T p.180
. . . . . . g.9169
GCGGACCTCTGGTCTGTTGGCTGCATACTATATGAACTGGCAGTAGGCACCCCTCCCTTC c.600
A D L W S V G C I L Y E L A V G T P P F p.200
. . . . . . g.9229
TATGCTACAAGCATCTTTCAGCTGGTCAGCCTCATTCTCAAGGACCCTGTGCGCTGGCCC c.660
Y A T S I F Q L V S L I L K D P V R W P p.220
. . | 07 . . . . g.12178
TCAACCATCAGTCCCTGCTTTAAG | AACTTCCTGCAGGGACTGCTCACCAAAGACCCACGG c.720
S T I S P C F K | N F L Q G L L T K D P R p.240
. . . . . | 08 g.12536
CAGCGACTGTCCTGGCCAGACCTCTTATATCACCCCTTTATTGCTGGTCATGTCACCA | TA c.780
Q R L S W P D L L Y H P F I A G H V T I | p.260
. . . . . . g.12596
ATAACTGAGCCAGCAGGCCCAGATTTGGGGACCCCATTCACCAGCCGCCTACCCCCAGAA c.840
I T E P A G P D L G T P F T S R L P P E p.280
. . . . . . g.12656
CTTCAGGTCCTAAAGGACGAACAGGCCCATCGGTTGGCCCCCAAGGGTAATCAGTCTCGC c.900
L Q V L K D E Q A H R L A P K G N Q S R p.300
. . . . | 09 . g.12879
ATCTTGACTCAGGCCTATAAACGCATGGCTGAGGAGGCCATGCAGAAG | AAACATCAGAAC c.960
I L T Q A Y K R M A E E A M Q K | K H Q N p.320
. . . . . . g.12939
ACAGGACCTGCCCTTGAGCAAGAGGACAAGACCAGCAAGGTGGCTCCTGGCACAGCCCCT c.1020
T G P A L E Q E D K T S K V A P G T A P p.340
. . . . . . g.12999
CTGCCCAGACTCGGGGCCACTCCTCAGGAATCAAGCCTCCTGGCCGGGATCTTAGCCTCA c.1080
L P R L G A T P Q E S S L L A G I L A S p.360
. . . . . | 10 . g.13581
GAATTGAAGAGCAGCTGGGCTAAATCAGGGACTGGAGAGGTGCCCTCTGCACCTCG | GGAA c.1140
E L K S S W A K S G T G E V P S A P R | E p.380
. . . . . . g.13641
AACCGGACCACCCCAGATTGTGAACGAGCATTCCCAGAGGAGAGGCCAGAGGTGCTGGGC c.1200
N R T T P D C E R A F P E E R P E V L G p.400
. . . | 11 . . . g.18083
CAGCGGAGCACTGATGTAGTGGACCTGGAAAATGAG | GAGCCAGACAGTGACAATGAGTGG c.1260
Q R S T D V V D L E N E | E P D S D N E W p.420
. . . . . . g.18143
CAGCACCTGCTAGAGACCACTGAGCCTGTGCCTATTCAACTGAAGGCTCCTCTCACCTTG c.1320
Q H L L E T T E P V P I Q L K A P L T L p.440
. . . . . . g.18203
CTGTGTAATCCTGACTTCTGCCAGCGCATCCAGAGTCAGCTGCATGAAGCTGGAGGGCAG c.1380
L C N P D F C Q R I Q S Q L H E A G G Q p.460
| 12 . . . . . . g.21731
| ATCCTGAAAGGCATCTTGGAGGGTGCTTCCCACATCCTGCCTGCATTCCGGGTCCTGAGC c.1440
| I L K G I L E G A S H I L P A F R V L S p.480
. . . . . . g.21791
AGTCTTCTCTCCAGCTGCAGTGATTCTGTTGCCTTGTATTCCTTCTGCCGGGAGGCAGGG c.1500
S L L S S C S D S V A L Y S F C R E A G p.500
. . . . . . g.21851
CTTCCTGGGCTGCTGCTGAGTCTACTCAGGCACAGTCAGGAGAGCAACAGCCTCCAGCAG c.1560
L P G L L L S L L R H S Q E S N S L Q Q p.520
| 13 . . . . . . g.22893
| CAATCTTGGTATGGGACCTTCTTACAGGACCTGATGGCTGTGATTCAGGCCTACTTTGCC c.1620
| Q S W Y G T F L Q D L M A V I Q A Y F A p.540
. . . | 14 . . g.23446
TGTACCTTCAATCTGGAGAGGAGCCAGACAAGTGACAG | CCTGCAGGTGTTTCAGGAGGCT c.1680
C T F N L E R S Q T S D S | L Q V F Q E A p.560
. . . . . . g.23506
GCCAACCTTTTTCTGGACCTGTTGGGGAAACTGCTGGCCCAACCAGATGACTCTGAGCAG c.1740
A N L F L D L L G K L L A Q P D D S E Q p.580
. . | 15 . . . . g.25153
ACTTTGCGGAGGGACAGCCTTATG | TGCTTTACTGTCCTGTGCGAAGCCATGGATGGGAAC c.1800
T L R R D S L M | C F T V L C E A M D G N p.600
. . . . . . g.25213
AGCCGGGCCATCTCCAAAGCCTTTTACTCCAGCTTGCTGACGACACAGCAGGTTGTCTTG c.1860
S R A I S K A F Y S S L L T T Q Q V V L p.620
. . . . . | 16 . g.25562
GATGGGCTCCTTCATGGCTTGACAGTTCCACAGCTCCCTGTCCACACTCCCCAAG | GAGCC c.1920
D G L L H G L T V P Q L P V H T P Q G | A p.640
. . . . . . g.25622
CCGCAAGTGAGCCAGCCACTGCGAGAGCAGAGTGAGGATATACCTGGAGCCATTTCCTCT c.1980
P Q V S Q P L R E Q S E D I P G A I S S p.660
. . . . . . g.25682
GCCCTGGCAGCCATATGCACTGCTCCTGTGGGACTGCCCGACTGCTGGGATGCCAAGGAG c.2040
A L A A I C T A P V G L P D C W D A K E p.680
| 17 . . . . . . g.26271
CAG | GTCTGTTGGCATTTGGCAAATCAGCTAACTGAAGACAGCAGCCAGCTCAGGCCATCC c.2100
Q | V C W H L A N Q L T E D S S Q L R P S p.700
. . . . | 18 . g.26709
CTCATCTCTGGCCTGCAGCATCCCATCCTGTGCCTGCACCTTCTCAAG | GTTCTATACTCC c.2160
L I S G L Q H P I L C L H L L K | V L Y S p.720
. . . . . . g.26769
TGCTGCCTTGTCAGTGAGGGCCTGTGCCGTCTTCTGGGGCAGGAGCCCCTGGCCTTGGAA c.2220
C C L V S E G L C R L L G Q E P L A L E p.740
. . | 19. . . . g.26902
TCCCTGTTTATGTTGATTCAGGGCAAG | GTAAAAGTAGTAGATTGGGAAGAGTCTACTGAA c.2280
S L F M L I Q G K | V K V V D W E E S T E p.760
. . . . . | 20 . g.27242
GTGACACTCTACTTCCTCTCCCTTCTTGTCTTTCGGCTCCAAAACCTGCCTTGTGG | AATG c.2340
V T L Y F L S L L V F R L Q N L P C G | M p.780
. . . . . . g.27302
GAGAAGCTAGGCAGTGACGTTGCTACTCTCTTTACCCATTCGCATGTCGTCTCTCTTGTG c.2400
E K L G S D V A T L F T H S H V V S L V p.800
| 21 . . . . . . g.27559
| AGTGCAGCAGCCTGTCTATTGGGACAGCTTGGTCAGCAAGGGGTGACCTTTGACCTCCAG c.2460
| S A A A C L L G Q L G Q Q G V T F D L Q p.820
. . . . . | 22 . g.29510
CCCATGGAATGGATGGCTGCAGCCACACATGCCTTGTCTGCCCCTGCAGAG | GTTCGGTTG c.2520
P M E W M A A A T H A L S A P A E | V R L p.840
. . . . . . g.29570
ACTCCACCAGGTAGTTGTGGATTCTATGATGGCCTCCTTATCCTTCTGTTGCAGCTCCTC c.2580
T P P G S C G F Y D G L L I L L L Q L L p.860
| 23 . . . . . . g.30067
ACTGAG | CAGGGGAAGGCTAGCCTAATCAGGGATATGTCCAGTTCAGAAATGTGGACCGTT c.2640
T E | Q G K A S L I R D M S S S E M W T V p.880
. . . . . . g.30127
TTGTGGCACCGCTTCTCCATGGTCCTGAGGCTCCCCGAGGAGGCATCTGCACAGGAAGGG c.2700
L W H R F S M V L R L P E E A S A Q E G p.900
. . . . . . g.30187
GAGCTTTCGCTATCCAGTCCACCAAGCCCTGAGCCAGACTGGACACTGATTTCTCCCCAG c.2760
E L S L S S P P S P E P D W T L I S P Q p.920
| 24 . . . . . . g.30496
G | GCATGGCAGCCCTGCTGAGCCTGGCCATGGCCACCTTTACCCAGGAGCCCCAGTTATGC c.2820
G | M A A L L S L A M A T F T Q E P Q L C p.940
. . . . . . g.30556
CTGAGCTGCCTGTCCCAGCATGGAAGTATCCTCATGTCCATCCTGAAGCATCTGCTTTGC c.2880
L S C L S Q H G S I L M S I L K H L L C p.960
. . | 25 . . . g.30859
CCCAGCTTCCTGAATCAACTGCGCCAGGC | GCCTCATGGGTCTGAGTTTCTCCCTGTCGTG c.2940
P S F L N Q L R Q A | P H G S E F L P V V p.980
. . . . . . g.30919
GTGCTCTCTGTCTGCCAGCTCCTTTGCTTCCCCTTTGCGCTGGACATGGATGCTGACCTC c.3000
V L S V C Q L L C F P F A L D M D A D L p.1000
. . . . . | 26. g.31579
CTTATAGGTGTCTTGGCCGACCTCAGGGACTCAGAAGTTGCAGCCCATCTGCTGCAG | GTC c.3060
L I G V L A D L R D S E V A A H L L Q | V p.1020
. . . . . . g.31639
TGCTGCTACCATCTTCCGTTGATGCAAGTGGAGCTGCCCATCAGCCTTCTCACACGCCTG c.3120
C C Y H L P L M Q V E L P I S L L T R L p.1040
. . . . . . g.31699
GCCCTCATGGATCCCACCTCTCTCAACCAGTTTGTGAACACAGTGTCTGCCTCCCCTAGA c.3180
A L M D P T S L N Q F V N T V S A S P R p.1060
. . . . . . g.31759
ACCATCGTCTCGTTTCTCTCAGTTGCCCTCCTGAGTGACCAGCCACTGTTGACCTCCGAC c.3240
T I V S F L S V A L L S D Q P L L T S D p.1080
. . . . . . g.31819
CTTCTCTCTCTGCTGGCCCATACTGCCAGGGTCCTGTCTCCCAGCCACTTGTCCTTTATC c.3300
L L S L L A H T A R V L S P S H L S F I p.1100
. . . . . . g.31879
CAAGAGCTTCTGGCTGGCTCTGATGAATCCTATCGGCCCCTGCGCAGCCTCCTGGGCCAC c.3360
Q E L L A G S D E S Y R P L R S L L G H p.1120
. . . . . . g.31939
CCAGAGAATTCTGTGCGGGCACACACTTATAGGCTCCTGGGACACTTGCTCCAACACAGC c.3420
P E N S V R A H T Y R L L G H L L Q H S p.1140
. . . . . . g.31999
ATGGCCCTGCGTGGGGCACTGCAGAGCCAGTCTGGACTGCTCAGCCTTCTGCTGCTTGGG c.3480
M A L R G A L Q S Q S G L L S L L L L G p.1160
. . . . . . g.32059
CTTGGAGACAAGGATCCTGTTGTGCGGTGCAGTGCCAGCTTTGCTGTGGGCAATGCAGCC c.3540
L G D K D P V V R C S A S F A V G N A A p.1180
. . . . . . g.32119
TACCAGGCTGGTCCTCTGGGACCTGCCCTGGCAGCTGCAGTGCCCAGTATGACCCAGCTG c.3600
Y Q A G P L G P A L A A A V P S M T Q L p.1200
. . . . . . g.32179
CTTGGAGATCCTCAGGCTGGTATCCGGCGCAATGTTGCATCAGCTCTGGGCAACTTGGGA c.3660
L G D P Q A G I R R N V A S A L G N L G p.1220
. . . . . . g.32239
CCTGAAGGTTTGGGAGAGGAGCTGTTACAGTGCGAAGTACCCCAGCGGCTCCTAGAAATG c.3720
P E G L G E E L L Q C E V P Q R L L E M p.1240
. . . . . . g.32299
GCATGTGGAGACCCCCAGCCAAATGTGAAGGAGGCTGCCCTCATTGCCCTCCGGAGCCTG c.3780
A C G D P Q P N V K E A A L I A L R S L p.1260
. . | 27 . . . . g.34876
CAACAGGAGCCTGGCATCCATCAG | GTACTGGTGTCCCTGGGTGCCAGTGAGAAACTATCC c.3840
Q Q E P G I H Q | V L V S L G A S E K L S p.1280
. . . . . . g.34936
TTGCTCTCTCTGGGGAATCAGTCACTGCCACACAGCAGTCCTAGGCCTGCCTCTGCCAAA c.3900
L L S L G N Q S L P H S S P R P A S A K p.1300
. . . . g.34984
CACTGCAGGAAACTCATTCACCTCCTGAGGCCAGCCCATAGCATGTGA c.3948
H C R K L I H L L R P A H S M X p.1315
. . . . . . g.35044
ttccagattcctgcggtccagcctccaactttggttgccagctctttcttattctactac c.*60
. . . . . . g.35104
acaagccgccaactcaactgagagctaaagagactagaaaagagataagctgccaactca c.*120
. . . . . . g.35164
actgagaacaagaaactagaagagatttatatataaagcttcttccttctcccagatgca c.*180
. . . . . . g.35224
ggatgttttcaaccagtaaattttattgctgttggtgccagagaagagtcctttcttctc c.*240
. . . . . . g.35284
tacatccaggggccttttctccaataatgtgcctttaactctagggacctgcctcacgga c.*300
. . . . . . g.35344
ccttagggaaaaacctcaacctgaaagatctcttcctttctggagctcctttaatcttcc c.*360
. . . . . . g.35404
cagcaggtttttgccttagacgtgctggccccaggacagtgatgaagacagagcctgtct c.*420
. . . . . . g.35464
cagctctaggctgtggggatcaatgccatcagtccctgttattgagggattatcccttag c.*480
. . . . . . g.35524
ccaacattcctatctgtgggtgggcgtggagagtgtatctttttttggggtgtgtgtgta c.*540
. . . . . . g.35584
tatgtgtgtgtgtatgtgtgtgtgtgtttaatagttctgtttgtaaactcttttaataaa c.*600
. . . . . . g.35644
agttgtgcctcaccatacttgaagctcccaggacaagggttgagaggctcaacccctctt c.*660
. . . . g.35692
tcagcttctatgtggtgttggaggtgctggtatcgtgttcacacaaga c.*708
(downstream sequence)
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