(used for variant description)
(last modified July 23, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000503.4 in the EYA1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011735.2, covering EYA1 transcript NM_000503.4.
(upstream sequence)
. . . . g.5040
aaaccaataaggttaggacaagagaatagctgtggtttgc c.-601
. . . . . . g.5100
gttgcaaaaaccaaaaaaaaaaaaaaaaaaaaaaaaagaaagccccgaggctccatgggc c.-541
. . . . . . g.5160
agacctacaaggctgcgcaaacaaatcgagggatgagattctgctgtttctttgtctagg c.-481
. . . . . . g.5220
gttctcagatgctatctgccgctgctgtttggtggggaaggagcgctgggcgcaaagctg c.-421
. . . . . . g.5280
ttaccaaacagaacggtgggagctgatggctccgagtttggggcgaggtagaaactctcc c.-361
. . . . . . g.5340
agtgccacttccgactttaagccttcctgttgccgtccactgtggcgggtttcttcctgg c.-301
. . . . . . g.5400
ggaacacgttttcgctcagtcgctcggcagcccgagcctgcggcagcggccaggcgcctg c.-241
. . . . . . g.5460
ccccctgcgccgagctttcccctgcagaggcgctccactcccagaagcgccgcggctgca c.-181
. . . . . . g.5520
ccagagcgcctgagagcccccgcgcgtacccatccaggagcaaaactatgtcaggaatgg c.-121
. . . . . . g.5580
aggtttgctaacccagaaaattcgaaggaacacattaaactggtggatgcagcagatgta c.-61
. | 02 . . . . . | 03 g.12327
agcgct | gtgcaaacatctcaagccagttcagatgttgctgtttcctcaagttgcag | gtct c.-1
. . . . . . g.12387
ATGGAAATGCAGGATCTAACCAGCCCGCATAGCCGTCTGAGTGGTAGTAGTGAATCCCCC c.60
M E M Q D L T S P H S R L S G S S E S P p.20
. . . . . . g.12447
AGTGGCCCCAAACTCGGTAACTCTCATATAAATAGTAATTCCATGACTCCCAATGGCACC c.120
S G P K L G N S H I N S N S M T P N G T p.40
| 04 . . . . . . g.33114
GAAG | TTAAAACAGAGCCAATGAGCAGCAGTGAAACAGCTTCAACGACAGCCGACGGGTCT c.180
E V | K T E P M S S S E T A S T T A D G S p.60
. . | 05 . . . . g.45002
TTAAACAATTTCTCAGGTTCAG | CAATTGGGAGCAGTAGTTTCAGCCCACGACCAACTCAC c.240
L N N F S G S A | I G S S S F S P R P T H p.80
. . . | 06 . . . g.45381
CAGTTCTCTCCACCACAGATTTACCCTTCCAA | CAGACCATACCCACATATTCTCCCTACC c.300
Q F S P P Q I Y P S N | R P Y P H I L P T p.100
. . . . . . g.45441
CCTTCCTCACAAACTATGGCTGCATATGGGCAAACACAGTTTACCACAGGAATGCAACAA c.360
P S S Q T M A A Y G Q T Q F T T G M Q Q p.120
. . . . . | 07 g.49545
GCTACAGCCTATGCCACGTACCCACAGCCAGGACAGCCGTACGGCATTTCCTCATATG | GT c.420
A T A Y A T Y P Q P G Q P Y G I S S Y G | p.140
. . . . . . g.49605
GCATTGTGGGCAGGCATCAAGACTGAAGGTGGATTGTCACAGTCTCAGTCACCTGGACAG c.480
A L W A G I K T E G G L S Q S Q S P G Q p.160
. . . . . . g.49665
ACAGGATTTCTCAGCTATGGCACAAGCTTCAGTACCCCTCAACCTGGACAGGCACCATAC c.540
T G F L S Y G T S F S T P Q P G Q A P Y p.180
. | 08 . . . . . g.67556
AGCTACCAGATGCAAG | GTAGCAGTTTTACAACATCATCAGGAATATATACAGGAAATAAT c.600
S Y Q M Q G | S S F T T S S G I Y T G N N p.200
. . . | 09 . . g.68020
TCACTCACAAATTCCTCTGGATTTAATAGTTCACAGCAG | GACTATCCGTCTTATCCCAGT c.660
S L T N S S G F N S S Q Q | D Y P S Y P S p.220
. . . . . . g.68080
TTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCACCGTATCCAGCACATTATATG c.720
F G Q G Q Y A Q Y Y N S S P Y P A H Y M p.240
. . . . . . g.68140
ACCAGCAGCAACACCAGCCCAACGACACCATCCACCAATGCCACTTACCAGCTTCAAGAA c.780
T S S N T S P T T P S T N A T Y Q L Q E p.260
. . . . | 10 . . g.95349
CCGCCATCTGGCATCACCAGCCAAGCAGTTACAGATCCCACAGCAG | AGTACAGCACAATC c.840
P P S G I T S Q A V T D P T A E | Y S T I p.280
. . . . . . g.95409
CACAGCCCATCAACACCCATTAAAGATTCAGATTCTGATCGATTGCGTCGAGGTTCAGAT c.900
H S P S T P I K D S D S D R L R R G S D p.300
. . . . . . g.95469
GGGAAATCACGTGGACGGGGCCGAAGAAACAATAATCCTTCACCTCCCCCAGATTCTGAT c.960
G K S R G R G R R N N N P S P P P D S D p.320
| 11 . . . . . . g.97463
CTTGAG | AGAGTGTTCATCTGGGACTTGGATGAGACAATCATTGTTTTCCACTCCTTGCTT c.1020
L E | R V F I W D L D E T I I V F H S L L p.340
. . . | 12 . . . g.122570
ACTGGGTCCTACGCCAACAGATATGGGAGG | GATCCACCCACTTCAGTTTCCCTTGGACTG c.1080
T G S Y A N R Y G R | D P P T S V S L G L p.360
. . . . . . g.122630
CGAATGGAAGAAATGATTTTCAACTTGGCAGACACACATTTATTTTTTAATGACTTAGAA c.1140
R M E E M I F N L A D T H L F F N D L E p.380
| 13 . . . . . | 14 g.150381
| GAATGTGACCAAGTCCATATAGATGATGTTTCTTCAGATGATAACGGACAGGACCTAAG | C c.1200
| E C D Q V H I D D V S S D D N G Q D L S | p.400
. . . . . . g.150441
ACATATAACTTTGGAACAGATGGCTTTCCTGCTGCAGCAACCAGTGCTAACTTATGTTTG c.1260
T Y N F G T D G F P A A A T S A N L C L p.420
. . . . . . g.150501
GCAACTGGTGTACGGGGCGGTGTGGACTGGATGAGAAAGTTGGCCTTCCGCTACAGACGG c.1320
A T G V R G G V D W M R K L A F R Y R R p.440
. . . . | 15 . . g.151524
GTAAAAGAGATCTACAACACCTACAAAAATAATGTTGGAG | GTCTGCTTGGTCCAGCTAAG c.1380
V K E I Y N T Y K N N V G G | L L G P A K p.460
. . . . . . g.151584
AGGGAAGCCTGGCTGCAGTTGAGGGCCGAAATTGAAGCCCTGACCGACTCCTGGTTGACA c.1440
R E A W L Q L R A E I E A L T D S W L T p.480
. . . | 16 . . . g.151749
CTGGCCCTGAAAGCACTCTCGCTCATTCACTCCCG | GACAAACTGTGTGAATATTTTAGTA c.1500
L A L K A L S L I H S R | T N C V N I L V p.500
. . . . . . g.151809
ACAACTACTCAGCTCATCCCAGCATTGGCGAAAGTCCTGCTGTATGGGTTAGGAATTGTA c.1560
T T T Q L I P A L A K V L L Y G L G I V p.520
. . . | 17. . . g.155999
TTTCCAATAGAAAATATTTACAGTGCAACTAAAATAG | GAAAAGAAAGCTGTTTTGAGAGA c.1620
F P I E N I Y S A T K I G | K E S C F E R p.540
. . . . . . g.156059
ATAATTCAAAGGTTTGGAAGAAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAA c.1680
I I Q R F G R K V V Y V V I G D G V E E p.560
. | 18 . . . . g.167854
GAACAAGGAGCAAAAAAG | CACGCGATGCCCTTCTGGAGGATCTCCAGCCACTCGGACCTC c.1740
E Q G A K K | H A M P F W R I S S H S D L p.580
. . . g.167893
ATGGCCCTGCACCATGCCTTGGAACTGGAGTACCTGTAA c.1779
M A L H H A L E L E Y L X p.592
. . . . . . g.167953
cagcgctcggcactttgacagcgcacagctgctctgtgaccagggacagatccagcaggc c.*60
. . . . . . g.168013
cccagtctcgcatcagcgccggcctccagaacttagcaatttccgcctggtgatgcgcag c.*120
. . . . . . g.168073
ttgctgtcagtcttgacctctgcctttgtggtgaatggaggaccacgtctatttcatcag c.*180
. . . . . . g.168133
aacagctgttgactctagtactgtgaatccagtgaaaataagccatgagaatgttttagc c.*240
. . . . . . g.168193
acagcgttatgtgtctgccacattaactacacggttcaaacctgtgaagaaaggacctgc c.*300
. . . . . . g.168253
aaacgcttcagttgttagcattttcaatgtgatataaacagcttctccaatacagcaaac c.*360
. . . . . . g.168313
ctaattgcacaacagagactgaaatgtgtttcctgaataccagtggaggaattttcttgt c.*420
. . . . . . g.168373
aaagaaggtttactttttggtgtctcatacccagggtaatctgtacatctctacttattt c.*480
. . . . . . g.168433
atgaacagactttttttaaaaagataaaaaaacagctttattgaggtataattcacccac c.*540
. . . . . . g.168493
cagacttttttaaacatcaaataattgaagagacaatagcattagaaataagtgattaaa c.*600
. . . . . . g.168553
ggcctctgcctcacaacatggcaagtacagtactttgaattttagcacattgcatagtag c.*660
. . . . . . g.168613
ttttaagtatgtctaatttaaacgtataatatgtacatcactgagacaatcatgtacaga c.*720
. . . . . . g.168673
aagaatttttggtgtaaatttgtaataatggataattcttttacatattgtttagggaaa c.*780
. . . . . . g.168733
tgatattgaaaggtagcaatgcctggatagtgaagcatgaggcagcacgtgcacaaattc c.*840
. . . . . . g.168793
atgtgccgtgccttatctgagttttcggtataaatatgtagataatggattttttttttt c.*900
. . . . . . g.168853
tagataatgttgtcaagaccaaaagcatggatgtcaagtgtcagtaaggattttgttttc c.*960
. . . . . . g.168913
taaaattttttcctgcatcagttcttctgagggccttgatgaaataacacagcagtttct c.*1020
. . . . . . g.168973
taaacaatttgaaacaaaatgagctctcctaccacctcactttttcatttccacactaat c.*1080
. . . . . . g.169033
gtattatatgtaactacttggaaaaaataattattcaaatgcttcttcccacaaagaata c.*1140
. . . . . . g.169093
tagatgatagtagatatattttattaataaaatggttcatgaatcggagactaacaaagt c.*1200
. . . . . . g.169153
tttcatgtgctcagaattattaattatcgtgtctgcattttctttcgataaaggaagaca c.*1260
. . . . . . g.169213
cacgatgctaatccggaaatcagcaaactttgcattactccctatgtgcgtattttctct c.*1320
. . . . . . g.169273
ttcttcctgtcaccctgaggaaggttcattgccattgtcatcaccatggaaacaacgttc c.*1380
. . . . . . g.169333
ctctccacctgcattatgtactacatgacaggcatcaatctggggaaataataaaattat c.*1440
. . . . . . g.169393
cacctttgtcagaccataagagtttctccaaaagtggtcagtttggctgggcaatatttt c.*1500
. . . . . . g.169453
ctctcatctaacaaacacaatccattgtcatgaaattacccttaggatgagtcttcttta c.*1560
. . . . . . g.169513
atcaatcatatattgggcgggaaaaacaccagctttgacccgaagtagttgaagagctac c.*1620
. . . . . . g.169573
ttcattcttttctgaagttgtgtgttgctgctagaaatagtcatttgtgaattatccaaa c.*1680
. . . . . . g.169633
ttgtttaaattcacaattgaattagttttttcttcctttttgcttgaagcaaacagttga c.*1740
. . . . . . g.169693
caatttttaaccttttcattttatgtttttgtactctgcagactgaaaagacaaagttta c.*1800
. . . . . . g.169753
tcttggccttactgtataaaggtgtgctgtgtccaccgttgtgtacagaatttttcttca c.*1860
. . . . g.169800
ttaattttgtgtttaagttaataaaatttatttgtgatgtactgtaa c.*1907
(downstream sequence)
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