(used for variant description)
(last modified July 18, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_004912.3 in the KRIT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012964.1, covering KRIT1 transcript NM_004912.3.
(upstream sequence)
. . . . . g.5254
cggggtggaaagctaaggcctttgaagacctgggaccccgtagtttcgggag c.-841
. . . . . . g.5314
agggtgaggggtgaatggtgctgaggtgcgaggagagggaaggacagtaaagagcaggtg c.-781
. . . . . . g.5374
ggcaggagggtctccgactccagagacctgagcttttggggcgcgggtgggagcgcgggg c.-721
. . . . . . g.5434
gaaccctcaagacggctttcttttggcgactgagggtttttctgccacaggaagctgggc c.-661
. . . . . . g.5494
cgggctgctgtgcctgggaggagggaaggaggaatgagaaagcggtgacggtccctgccc c.-601
. . . . . . g.5554
cccctcgccaggtgactgtcccacccatttagttgaatgtagcggccagagaggcactcg c.-541
. . . . . . g.5614
cggcagcccgtacgggtgggacctctcggtgtccttcgggaaacaggaggagcaagttcg c.-481
. . . . . . g.5674
actccagcgagggaaaacggaggtgggagactgaaccatctccacatctagttgccccag c.-421
| 02 . . . . . g.5989
| gtttttggctttcatcgctttttctacatgtttttagcctcaccagaagtctttcatctc c.-361
. . . . . . g.6049
ggtggtccaactcaggatctcagcctcattattttcttacccttctggagtgcatatgtg c.-301
. . . . . . g.6109
cctttacagtttctgtttgcaaacgctgtctagcatactaagaggatgttagcaaacctg c.-241
. . . . . . g.6169
ttccatggacactaaatggcagttgtacatctcccctcatcagtcatagtgacaaccaga c.-181
. . . | 03 . . g.6981
aatgccctccatattttccagtgatcccag | tcttcaatgcgtctgtctcataatttgtaa c.-121
. . . . . . g.7041
acgtttattatcttgaagtcattgttaatctgtggtgaaaagtaattgctaaatagaaat c.-61
. . . . . . | 04 g.8965
tctgagaagaaaaaggcctcatccttttcacatgatgtaggaaggtctgttgcatgag | ca c.-1
. . . . . . g.9025
ATGGGAAATCCAGAAAACATAGAAGATGCATATGTTGCTGTTATTCGTCCAAAGAATACT c.60
M G N P E N I E D A Y V A V I R P K N T p.20
. . . . | 05 . . g.9966
GCCAGTCTCAATTCTCGGGAATACAGAGCTAAGTCATATGAA | ATTTTGTTGCATGAAGTT c.120
A S L N S R E Y R A K S Y E | I L L H E V p.40
. . . . . . g.10026
CCCATTGAAGGACAGAAAAAAAAGAGAAAGAAAGTTTTATTGGAAACGAAACTTCAAGGC c.180
P I E G Q K K K R K K V L L E T K L Q G p.60
. . . . . . g.10086
AACAGTGAAATAACACAAGGCATATTGGATTACGTAGTAGAAACCACCAAACCAATTTCT c.240
N S E I T Q G I L D Y V V E T T K P I S p.80
. . | 06 . . . . g.13379
CCTGCAAACCAGGGTATCAGAG | GAAAACGAGTTGTACTAATGAAAAAATTTCCTCTGGAT c.300
P A N Q G I R G | K R V V L M K K F P L D p.100
. . . . . | 07 . g.14563
GGAGAGAAGATGGGCAGAGAAGCATCATTATTTATTGTTCCATCAGTTGTCAAAG | ATAAT c.360
G E K M G R E A S L F I V P S V V K D | N p.120
. . . . . . g.14623
ACTAAATACACATATACCCCAGGATGCCCAATTTTTTACTGCTTACAAGATATTATGCGA c.420
T K Y T Y T P G C P I F Y C L Q D I M R p.140
. . . . . . g.14683
GTCTGTAGTGAATCCAGTACTCATTTTGCTACACTTACAGCAAGGATGTTAATAGCCTTG c.480
V C S E S S T H F A T L T A R M L I A L p.160
| 08 . . . . . . g.15509
GATAA | GTGGTTAGATGAACGTCATGCACAATCTCACTTTATTCCAGCTTTATTCCGACCT c.540
D K | W L D E R H A Q S H F I P A L F R P p.180
. . . . . . g.15569
TCTCCTCTTGAGCGGATAAAAACTAATGTCATAAATCCTGCATATGCTACTGAATCAGGT c.600
S P L E R I K T N V I N P A Y A T E S G p.200
. . . . . . g.15629
CAGACAGAAAACTCACTACATATGGGCTATAGTGCACTAGAAATAAAGAGTAAAATGTTA c.660
Q T E N S L H M G Y S A L E I K S K M L p.220
. . . . . . g.15689
GCCCTAGAGAAAGCAGATACCTGTATTTACAACCCTTTGTTTGGATCAGATCTTCAGTAT c.720
A L E K A D T C I Y N P L F G S D L Q Y p.240
| 09 . . . . . g.16228
ACAAATCGG | GTAGATAAAGTGGTAATAAATCCATACTTTGGTCTAGGAGCTCCAGACTAC c.780
T N R | V D K V V I N P Y F G L G A P D Y p.260
. . . . . . g.16288
TCAAAAATCCAAATACCTAAACAGGAAAAATGGCAGAGAAGCATGAGCAGTGTCACAGAA c.840
S K I Q I P K Q E K W Q R S M S S V T E p.280
| 10 . . . . . . g.16563
GACAA | GGAACGACAGTGGGTAGATGATTTTCCTCTCCACCGAAGCGCCTGTGAAGGAGAT c.900
D K | E R Q W V D D F P L H R S A C E G D p.300
. . . . . . g.16623
TCAGAATTACTAAGCCGTCTTCTCAGTGAAAGATTTTCAGTCAACCAGTTAGATAGTGAC c.960
S E L L S R L L S E R F S V N Q L D S D p.320
. . | 11 . . . g.24449
CACTGGGCACCCATTCATTATGCATGCTG | GTATGGAAAAGTTGAGGCCACTCGCATATTG c.1020
H W A P I H Y A C W | Y G K V E A T R I L p.340
. . . . . . g.24509
TTAGAGAAAGGAAAGTGCAATCCAAACCTTTTAAATGGACAACTTAGTTCTCCTCTTCAT c.1080
L E K G K C N P N L L N G Q L S S P L H p.360
. . . . . . g.24569
TTTGCTGCTGGAGGAGGACATGCTGAAATAGTACAGATTCTCCTAAACCACCCAGAAACG c.1140
F A A G G G H A E I V Q I L L N H P E T p.380
| 12 . . . . . . g.25327
GATAGA | CATATAACAGACCAACAAGGAAGATCTCCATTAAATATTTGTGAAGAAAACAAA c.1200
D R | H I T D Q Q G R S P L N I C E E N K p.400
. . . . . | 13 . g.28128
CAAAACAACTGGGAAGAAGCTGCAAAATTGTTGAAGGAAGCAATTAACAAACCA | TATGAA c.1260
Q N N W E E A A K L L K E A I N K P | Y E p.420
. . . . . . g.28188
AAAGTTCGAATATACAGAATGGATGGGTCATATCGTTCTGTTGAATTGAAGCATGGAAAT c.1320
K V R I Y R M D G S Y R S V E L K H G N p.440
. . . . . . g.28248
AATACCACAGTGCAGCAGATAATGGAAGGAATGCGTCTCTCTCAAGAAACTCAGCAATAT c.1380
N T T V Q Q I M E G M R L S Q E T Q Q Y p.460
. . . | 14 . . . g.29076
TTCACTATATGGATTTGTTCAGAAAACCTCA | GCCTTCAACTCAAACCATATCATAAACCC c.1440
F T I W I C S E N L S | L Q L K P Y H K P p.480
. . . . . . g.29136
TTGCAACATGTTCGTGACTGGCCAGAAATACTTGCTGAATTGACTAATCTGGATCCTCAA c.1500
L Q H V R D W P E I L A E L T N L D P Q p.500
. . . . . . g.29196
AGGGAAACACCTCAGCTTTTTCTAAGAAGAGATGTGAGACTTCCCTTGGAAGTTGAAAAA c.1560
R E T P Q L F L R R D V R L P L E V E K p.520
| 15 . . . . . . g.36380
CAG | ATTGAAGACCCACTAGCTATTCTTATTCTCTTTGATGAAGCCAGATATAATTTATTG c.1620
Q | I E D P L A I L I L F D E A R Y N L L p.540
. . . . . . g.36440
AAGGGCTTTTATACAGCTCCTGATGCTAAGCTGATAACATTGGCAAGTCTGCTTTTGCAA c.1680
K G F Y T A P D A K L I T L A S L L L Q p.560
. . . . . | 16 . g.37131
ATAGTCTATGGAAATTATGAGAGTAAAAAACACAAGCAAGGTTTCCTAAA | TGAAGAAAAT c.1740
I V Y G N Y E S K K H K Q G F L N | E E N p.580
. . . . . . g.37191
CTAAAATCCATCGTACCTGTTACCAAACTGAAAAGTAAGGCACCTCACTGGACAAATCGC c.1800
L K S I V P V T K L K S K A P H W T N R p.600
. | 17 . . . . g.37741
ATACTTCATGAATACAAG | AATCTCAGTACAAGTGAAGGTGTCAGTAAAGAAATGCATCAC c.1860
I L H E Y K | N L S T S E G V S K E M H H p.620
. . . . . . g.37801
CTTCAGCGCATGTTCTTACAGAATTGCTGGGAAATTCCTACTTATGGAGCAGCATTTTTC c.1920
L Q R M F L Q N C W E I P T Y G A A F F p.640
. . . . . . g.37861
ACAGGACAGATATTTACAAAGGCAAGCCCCAGCAATCATAAAGTCATCCCTGTGTATGTA c.1980
T G Q I F T K A S P S N H K V I P V Y V p.660
. . . . | 18 . . g.49692
GGAGTGAATATAAAAGGACTTCATCTCCTCAACATGGAAACTAAG | GCTTTACTCATCAGT c.2040
G V N I K G L H L L N M E T K | A L L I S p.680
. . . . . . g.49752
CTTAAGTATGGTTGTTTTATGTGGCAATTGGGAGATACTGATACTTGTTTTCAGATCCAT c.2100
L K Y G C F M W Q L G D T D T C F Q I H p.700
. . . . | 19 . . g.50314
AGCATGGAAAATAAAATGAGCTTTATAGTACATACAAAACAG | GCTGGTCTCGTGGTAAAA c.2160
S M E N K M S F I V H T K Q | A G L V V K p.720
. . . . . g.50365
CTGTTAATGAAGCTAAATGGACAGTTAATGCCCACTGAAAGAAATTCATGA c.2211
L L M K L N G Q L M P T E R N S X p.736
. . . . . . g.50425
aagagaagtaactgttactcaagccaccacattttgtaatgcagagttttttttccgtga c.*60
. . . . . . g.50485
aagatttcttaaaatattacttttggccgagcatggtggctcacccctgtaattccagca c.*120
. . . . . . g.50545
ctttgggaggctggggcaggcggatcacctgaagtcagagttcaagaccagcctggccaa c.*180
. . . . . . g.50605
catggtgaaaccctgtctctacaaaaatacaaaaattagctgggtgtggtggcgggcgcc c.*240
. . . . . . g.50665
tataatcctagctactagggaggccaaggtgggagatcgcttaaacccaggaggtggagg c.*300
. . . . . . g.50725
ttgtagtgagccaagattgcaccacggcacgctagcctgggtgacacagcaagactccat c.*360
. . . . . . g.50785
ctcaaaaaaaaaaaaaaattactttcaacaaggcatatagtctcttgtaatatatatgta c.*420
. . . . . . g.50845
tactattacattgtacagaatctgtacttatgtttggtgtgtaatataccaattagtttt c.*480
. . . . . . g.50905
atataatatcctcataagctattctaatttttgagagaaacacaaaaagttatagattga c.*540
. . . . . . g.50965
tagtctgtataatattagacaaaatagtaagctttataaaaagttatttttggtaaatgg c.*600
. . . . . . g.51025
taaggaatttggggtggaatgtgatgagattaaaatgtagctttggtataacttcatgtg c.*660
. . . . . . g.51085
tatttcaaaatatactgaacgtcaacatgatttgaataaagaaaatgtattttctacttg c.*720
. . . . . . g.51145
aaccacataacactgttatttaaaacagttttctgcagtctataaacatttctcaacatt c.*780
. . . . . . g.51205
tttttaaaagtcttagttaaaatgtaaatctgatatacagtagtgtttctcaaagtatag c.*840
. . . . . . g.51265
ttcatgaactccttgcatcataattacctagatgcctcttaaaaatgaagatttcagaga c.*900
. . . . . . g.51325
cccattctaaacaagggcattcactctctggaagtagcatggccttgtgaacttaaattt c.*960
. . . . . . g.51385
ggttttgttttttcttttttgctgttagaataatttcagacccaataaggaatttcgatt c.*1020
. . . . . . g.51445
attaaagttgagaaatttcacaaaactgcctggcacacaagcacacacatacatagacac c.*1080
. . . . . . g.51505
attttaagtgataatctcttgatattagaagttgcatttgttaaatacatgctgtatttt c.*1140
. . . . . . g.51565
ttatgagttgacttaatagtttatgtatattgactttgctttgtaggaagtaaatcacca c.*1200
. . . . . . g.51625
gatatcttattgtttcatttaggaaagtagtgatatagatgaagagccaacttgatgaat c.*1260
. . . . . . g.51685
gtgctattcataagctagaaactacagtttttccaaactaataaactgatgaattctaaa c.*1320
. . . . . . g.51745
taagttcagagatatagtcatatttaaagttgtcctacagtttgcagataatttttatat c.*1380
. . . . . . g.51805
tactattcttcacattaacttctgcttatttttaatggtactatatgtaggccttattaa c.*1440
. . . . . . g.51865
aattaagattgtatggttaagtaaagttaacaagaaagcctgatttatctttaattctgt c.*1500
. . . . . . g.51925
gctaggtacttttgattctacatgaacaatacccttttcagttcccttcattctaatgtc c.*1560
. . . . . . g.51985
ctcaactgttaccaaataccctgttgactcccaaacctaagattttagcctcaacttctt c.*1620
. . . . . . g.52045
ttctgaacttcaaatcttaatttccaagttatacttgttctaggtccatctaaatggtct c.*1680
. . . . . . g.52105
acagagaacttcagttgaatcatagctggaaacagaatttatttcctctatttgcttcat c.*1740
. . g.52132
tctgtccttccactatattccctattt c.*1767
(downstream sequence)
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