(used for variant description)
(last modified November 25, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000459.3 in the TEK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011828.1, covering TEK transcript NM_000459.3.
(upstream sequence)
. . g.5022
agtttcccgcctatgagaggat c.-421
. . . . . . g.5082
acccctattgtttctgaaaatgctgaccgggacccacacttccaacaaaaattcctctgc c.-361
. . . . . . g.5142
ccctacagcagcagcaaaagcagcagcagaagcaacagcaacagataagtgttttgatga c.-301
. . . . . . g.5202
attgcgagatggatagggcttgagtgcccccagccctgctgataccaaatgcctttaaga c.-241
. . . . . . g.5262
tacagcctttcccatcctaatctacaaaggaaacaggaaaaaggaacttaaaactccctg c.-181
. . . . . . g.5322
tgctcagacagaaatgagactgttacagcctgcttctgtgctgttccttcttgcctctaa c.-121
. . . . . . g.5382
cttgtaaacaagacgtagtaggacgatgctaatggaaagtcacaaaccgctgggtttttg c.-61
. . . . . . g.5442
aaaggatccttgggacctcatgcacatttgtggaaactggatggagagatttggggaagc c.-1
. . . . . | 02 . g.53690
ATGGACTCTTTAGCCAGCTTAGTTCTCTGTGGAGTCAGCTTGCTCCTTTCTG | GAACTGTG c.60
M D S L A S L V L C G V S L L L S G | T V p.20
. . . . . . g.53750
GAAGGTGCCATGGACTTGATCTTGATCAATTCCCTACCTCTTGTATCTGATGCTGAAACA c.120
E G A M D L I L I N S L P L V S D A E T p.40
. . . . . . g.53810
TCTCTCACCTGCATTGCCTCTGGGTGGCGCCCCCATGAGCCCATCACCATAGGAAGGGAC c.180
S L T C I A S G W R P H E P I T I G R D p.60
. . . . . . g.53870
TTTGAAGCCTTAATGAACCAGCACCAGGATCCGCTGGAAGTTACTCAAGATGTGACCAGA c.240
F E A L M N Q H Q D P L E V T Q D V T R p.80
. . . . . . g.53930
GAATGGGCTAAAAAAGTTGTTTGGAAGAGAGAAAAGGCTAGTAAGATCAATGGTGCTTAT c.300
E W A K K V V W K R E K A S K I N G A Y p.100
. . . . . . g.53990
TTCTGTGAAGGGCGAGTTCGAGGAGAGGCAATCAGGATACGAACCATGAAGATGCGTCAA c.360
F C E G R V R G E A I R I R T M K M R Q p.120
| 03 . . . . . . g.64402
CAAG | CTTCCTTCCTACCAGCTACTTTAACTATGACTGTGGACAAGGGAGATAACGTGAAC c.420
Q A | S F L P A T L T M T V D K G D N V N p.140
. . . . . | 04 . g.65333
ATATCTTTCAAAAAGGTATTGATTAAAGAAGAAGATGCAGTGATTTACAAAAATG | GTTCC c.480
I S F K K V L I K E E D A V I Y K N G | S p.160
. . . . . . g.65393
TTCATCCATTCAGTGCCCCGGCATGAAGTACCTGATATTCTAGAAGTACACCTGCCTCAT c.540
F I H S V P R H E V P D I L E V H L P H p.180
. . . . . . g.65453
GCTCAGCCCCAGGATGCTGGAGTGTACTCGGCCAGGTATATAGGAGGAAACCTCTTCACC c.600
A Q P Q D A G V Y S A R Y I G G N L F T p.200
. . | 05 . . . g.68499
TCGGCCTTCACCAGGCTGATAGTCCGGA | GATGTGAAGCCCAGAAGTGGGGACCTGAATGC c.660
S A F T R L I V R R | C E A Q K W G P E C p.220
. . . . . . g.68559
AACCATCTCTGTACTGCTTGTATGAACAATGGTGTCTGCCATGAAGATACTGGAGAATGC c.720
N H L C T A C M N N G V C H E D T G E C p.240
. . . . | 06 . . g.69093
ATTTGCCCTCCTGGGTTTATGGGAAGGACGTGTGAGAAGG | CTTGTGAACTGCACACGTTT c.780
I C P P G F M G R T C E K A | C E L H T F p.260
. . . . . . g.69153
GGCAGAACTTGTAAAGAAAGGTGCAGTGGACAAGAGGGATGCAAGTCTTATGTGTTCTGT c.840
G R T C K E R C S G Q E G C K S Y V F C p.280
. . . . . . g.69213
CTCCCTGACCCCTATGGGTGTTCCTGTGCCACAGGCTGGAAGGGTCTGCAGTGCAATGAA c.900
L P D P Y G C S C A T G W K G L Q C N E p.300
| 07 . . . . . . g.76150
G | CATGCCACCCTGGTTTTTACGGGCCAGATTGTAAGCTTAGGTGCAGCTGCAACAATGGG c.960
A | C H P G F Y G P D C K L R C S C N N G p.320
. . . . . . g.76210
GAGATGTGTGATCGCTTCCAAGGATGTCTCTGCTCTCCAGGATGGCAGGGGCTCCAGTGT c.1020
E M C D R F Q G C L C S P G W Q G L Q C p.340
. | 08 . . . . . g.79360
GAGAGAGAAG | GCATACAGAGGATGACCCCAAAGATAGTGGATTTGCCAGATCATATAGAA c.1080
E R E G | I Q R M T P K I V D L P D H I E p.360
. . . . . . g.79420
GTAAACAGTGGTAAATTTAATCCCATTTGCAAAGCTTCTGGCTGGCCGCTACCTACTAAT c.1140
V N S G K F N P I C K A S G W P L P T N p.380
. . . . | 09 . . g.81354
GAAGAAATGACCCTGGTGAAGCCGGATGGGACAGTGCTCCAT | CCAAAAGACTTTAACCAT c.1200
E E M T L V K P D G T V L H | P K D F N H p.400
. . . . . . g.81414
ACGGATCATTTCTCAGTAGCCATATTCACCATCCACCGGATCCTCCCCCCTGACTCAGGA c.1260
T D H F S V A I F T I H R I L P P D S G p.420
. . . . . . g.81474
GTTTGGGTCTGCAGTGTGAACACAGTGGCTGGGATGGTGGAAAAGCCCTTCAACATTTCT c.1320
V W V C S V N T V A G M V E K P F N I S p.440
| 10. . . . . . g.86433
GTTAAAG | TTCTTCCAAAGCCCCTGAATGCCCCAAACGTGATTGACACTGGACATAACTTT c.1380
V K V | L P K P L N A P N V I D T G H N F p.460
. . . . . . g.86493
GCTGTCATCAACATCAGCTCTGAGCCTTACTTTGGGGATGGACCAATCAAATCCAAGAAG c.1440
A V I N I S S E P Y F G D G P I K S K K p.480
. . . . | 11 . g.88351
CTTCTATACAAACCCGTTAATCACTATGAGGCTTGGCAACATATTCAAG | TGACAAATGAG c.1500
L L Y K P V N H Y E A W Q H I Q V | T N E p.500
. . . . . . g.88411
ATTGTTACACTCAACTATTTGGAACCTCGGACAGAATATGAACTCTGTGTGCAACTGGTC c.1560
I V T L N Y L E P R T E Y E L C V Q L V p.520
. . . . . . g.88471
CGTCGTGGAGAGGGTGGGGAAGGGCATCCTGGACCTGTGAGACGCTTCACAACAGCTTCT c.1620
R R G E G G E G H P G P V R R F T T A S p.540
| 12 . . . . . . g.93222
ATCG | GACTCCCTCCTCCAAGAGGTCTAAATCTCCTGCCTAAAAGTCAGACCACTCTAAAT c.1680
I G | L P P P R G L N L L P K S Q T T L N p.560
. . . . . . g.93282
TTGACCTGGCAACCAATATTTCCAAGCTCGGAAGATGACTTTTATGTTGAAGTGGAGAGA c.1740
L T W Q P I F P S S E D D F Y V E V E R p.580
. . . . . . g.93342
AGGTCTGTGCAAAAAAGTGATCAGCAGAATATTAAAGTTCCAGGCAACTTGACTTCGGTG c.1800
R S V Q K S D Q Q N I K V P G N L T S V p.600
. . . . . . g.93402
CTACTTAACAACTTACATCCCAGGGAGCAGTACGTGGTCCGAGCTAGAGTCAACACCAAG c.1860
L L N N L H P R E Q Y V V R A R V N T K p.620
. . . . | 13 . g.98682
GCCCAGGGGGAATGGAGTGAAGATCTCACTGCTTGGACCCTTAGTGACA | TTCTTCCTCCT c.1920
A Q G E W S E D L T A W T L S D I | L P P p.640
. . . . . . g.98742
CAACCAGAAAACATCAAGATTTCCAACATTACACACTCCTCAGCTGTGATTTCTTGGACA c.1980
Q P E N I K I S N I T H S S A V I S W T p.660
. . . . . . g.98802
ATATTGGATGGCTATTCTATTTCTTCTATTACTATCCGTTACAAGGTTCAAGGCAAGAAT c.2040
I L D G Y S I S S I T I R Y K V Q G K N p.680
. . . . . . g.98862
GAAGACCAGCACGTTGATGTGAAGATAAAGAATGCCACCATCACTCAGTATCAGCTCAAG c.2100
E D Q H V D V K I K N A T I T Q Y Q L K p.700
. . . . . . g.98922
GGCCTAGAGCCTGAAACAGCATACCAGGTGGACATTTTTGCAGAGAACAACATAGGGTCA c.2160
G L E P E T A Y Q V D I F A E N N I G S p.720
. . . . | 14 . g.100773
AGCAACCCAGCCTTTTCTCATGAACTGGTGACCCTCCCAGAATCTCAAG | CACCAGCGGAC c.2220
S N P A F S H E L V T L P E S Q A | P A D p.740
. . . . . . g.100833
CTCGGAGGGGGGAAGATGCTGCTTATAGCCATCCTTGGCTCTGCTGGAATGACCTGCCTG c.2280
L G G G K M L L I A I L G S A G M T C L p.760
. . . . . . g.100893
ACTGTGCTGTTGGCCTTTCTGATCATATTGCAATTGAAGAGGGCAAATGTGCAAAGGAGA c.2340
T V L L A F L I I L Q L K R A N V Q R R p.780
. . | 15 . . . . g.102469
ATGGCCCAAGCCTTCCAAAACGTG | AGGGAAGAACCAGCTGTGCAGTTCAACTCAGGGACT c.2400
M A Q A F Q N V | R E E P A V Q F N S G T p.800
. . . . . . g.102529
CTGGCCCTAAACAGGAAGGTCAAAAACAACCCAGATCCTACAATTTATCCAGTGCTTGAC c.2460
L A L N R K V K N N P D P T I Y P V L D p.820
. . . . . . g.102589
TGGAATGACATCAAATTTCAAGATGTGATTGGGGAGGGCAATTTTGGCCAAGTTCTTAAG c.2520
W N D I K F Q D V I G E G N F G Q V L K p.840
. . . . . | 16 . g.104977
GCGCGCATCAAGAAGGATGGGTTACGGATGGATGCTGCCATCAAAAGAATGAAAG | AATAT c.2580
A R I K K D G L R M D A A I K R M K E | Y p.860
. . . . . . g.105037
GCCTCCAAAGATGATCACAGGGACTTTGCAGGAGAACTGGAAGTTCTTTGTAAACTTGGA c.2640
A S K D D H R D F A G E L E V L C K L G p.880
. . . . | 17 . . g.108572
CACCATCCAAACATCATCAATCTCTTAGGAGCATGTGAACATCGAG | GCTACTTGTACCTG c.2700
H H P N I I N L L G A C E H R G | Y L Y L p.900
. . . . . . g.108632
GCCATTGAGTACGCGCCCCATGGAAACCTTCTGGACTTCCTTCGCAAGAGCCGTGTGCTG c.2760
A I E Y A P H G N L L D F L R K S R V L p.920
. . . . . . g.108692
GAGACGGACCCAGCATTTGCCATTGCCAATAGCACCGCGTCCACACTGTCCTCCCAGCAG c.2820
E T D P A F A I A N S T A S T L S S Q Q p.940
. . . . . | 18. g.109338
CTCCTTCACTTCGCTGCCGACGTGGCCCGGGGCATGGACTACTTGAGCCAAAAACAG | TTT c.2880
L L H F A A D V A R G M D Y L S Q K Q | F p.960
. . . . . . g.109398
ATCCACAGGGATCTGGCTGCCAGAAACATTTTAGTTGGTGAAAACTATGTGGCAAAAATA c.2940
I H R D L A A R N I L V G E N Y V A K I p.980
. . . . . | 19 . g.113548
GCAGATTTTGGATTGTCCCGAGGTCAAGAGGTGTATGTGAAAAAGACAATG | GGAAGGCTC c.3000
A D F G L S R G Q E V Y V K K T M | G R L p.1000
. . . . . . g.113608
CCAGTGCGCTGGATGGCCATCGAGTCACTGAATTACAGTGTGTACACAACCAACAGTGAT c.3060
P V R W M A I E S L N Y S V Y T T N S D p.1020
| 20 . . . . | 21 . . g.115917
GT | ATGGTCCTATGGTGTGTTACTATGGGAGATTGTTAGCTTAG | GAGGCACACCCTACTGC c.3120
V | W S Y G V L L W E I V S L G | G T P Y C p.1040
. . . . . . g.115977
GGGATGACTTGTGCAGAACTCTACGAGAAGCTGCCCCAGGGCTACAGACTGGAGAAGCCC c.3180
G M T C A E L Y E K L P Q G Y R L E K P p.1060
. . | 22 . . . . g.124097
CTGAACTGTGATGATGAGGT | GTATGATCTAATGAGACAATGCTGGCGGGAGAAGCCTTAT c.3240
L N C D D E V | Y D L M R Q C W R E K P Y p.1080
. . . . . . g.124157
GAGAGGCCATCATTTGCCCAGATATTGGTGTCCTTAAACAGAATGTTAGAGGAGCGAAAG c.3300
E R P S F A Q I L V S L N R M L E E R K p.1100
| 23 . . . . . . g.125069
| ACCTACGTGAATACCACGCTTTATGAGAAGTTTACTTATGCAGGAATTGACTGTTCTGCT c.3360
| T Y V N T T L Y E K F T Y A G I D C S A p.1120
. g.125084
GAAGAAGCGGCCTAG c.3375
E E A A X p.1124
. . . . . . g.125144
gacagaacatctgtataccctctgtttccctttcactggcatgggagacccttgacacct c.*60
. . . . . . g.125204
gctgagaaaacatgcctctgccaaaggatgtgatatataagtgtacatatgtgctgtaca c.*120
. . . . . . g.125264
cctgggaccttcaccactgtagatcccatgcatggatctatgtagtatgctctgactcta c.*180
. . . . . . g.125324
ataggactgtatatactgttttaagaatgggctgaaatcagaatgcctgtttgtggtttc c.*240
. . . . . . g.125384
atatgcaataatatatttttttaaaaatgtggacttcataggaaggcgtgagtacaatta c.*300
. . . . . . g.125444
gtataatgcataactcattgttgtcctagatattttgatatttacctttatgttgaatgc c.*360
. . . . . . g.125504
tattaaatgttttcctgtgtcaaagtaaaatattgttaataaacctaacaatgaccctga c.*420
. . . . . . g.125564
tagtacaggttaagtgagagaactatatgaattctaacaagtcataggttaatatttaag c.*480
. . . . . . g.125624
acactgaaaaatctaagtgatataaatcagattcttctctctcaattttatccctcacct c.*540
. . . . . . g.125684
gtagcagccagtcccgtttcatttagtcatgtgaccactctgtcttgtgtttccacagcc c.*600
. . . . . . g.125744
tgcaagtcagtccaggatgctaacatctaaaaatagacttaaatctcattgcttacaagc c.*660
. . . . . . g.125804
ctaagaatctttagagaagtatacataagtttaggataaaataatgggattttcttttct c.*720
. . . . . . g.125864
tttctctggtaatattgacttgtatattttaagaaataacagaaagcctgggtgacattt c.*780
. . . . . . g.125924
gggagacatgtgacatttatatattgaattaatatccctacatgtattgcacattgtaaa c.*840
. . . . . . g.125984
aagttttagttttgatgagttgtgagtttaccttgtatactgtaggcacactttgcactg c.*900
. . . . g.126026
atatatcatgagtgaataaatgtcttgcctactcacgtctca c.*942
(downstream sequence)
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