(used for variant description)
(last modified December 18, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_145246.4 in the FRA10AC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering FRA10AC1 transcript NM_145246.4.
(upstream sequence)
. g.5018
acccgtagggagaggcgg c.-181
. . . . . . g.5078
gttgcgggcggcggcggcggcggcggcggcggtggtggttgtggcgaggctgtgcggcag c.-121
. . . . . . g.5138
ggcgcacgggacctgtgctgcagcggctctctcaggccgtgggtcgtcgctgcagctgcc c.-61
. . . . . . g.5198
gggaaagaaggaaacgacgactccgggggcgaacttggcacacagggaggaagggaaagg c.-1
| 02 . . . . . . g.7526
| ATGCATGGTCATGGAGGCTATGATTCTGATTTTAGTGATGATGAACGCTGTGGAGAATCC c.60
| M H G H G G Y D S D F S D D E R C G E S p.20
. | 03. . . . . g.9219
AGCAAAAGGAAAAAAAG | GACAGTTGAAGATGACTTACTGCTCCAAAAACCATTTCAGAAA c.120
S K R K K R | T V E D D L L L Q K P F Q K p.40
. . . . . | 04 . g.9398
GAAAAACATGGAAAGGTGGCCCATAAACAAGTTGCAGCAGAATTGCTGGATAG | GGAAGAA c.180
E K H G K V A H K Q V A A E L L D R | E E p.60
. . . | 05 . . g.12656
GCAAGAAATAGAAGGTTTCATCTCATAGCTATGGATGCT | TATCAAAGACATACAAAGTTC c.240
A R N R R F H L I A M D A | Y Q R H T K F p.80
. . . . . | 06 . g.14847
GTAAATGACTATATTTTATACTATGGTGGCAAAAAAGAAGACTTCAAGCGTTTGGG | GGAA c.300
V N D Y I L Y Y G G K K E D F K R L G | E p.100
. . . . . . g.14907
AATGACAAGACAGACTTGGATGTTATACGAGAAAATCATAGATTCCTATGGAATGAGGAG c.360
N D K T D L D V I R E N H R F L W N E E p.120
. . | 07 . . . . g.15519
GACGAAATGGACATGACTTG | GGAGAAGAGACTTGCTAAGAAATACTATGATAAATTATTT c.420
D E M D M T W | E K R L A K K Y Y D K L F p.140
. . . . | 08 . . g.20138
AAGGAATACTGCATAGCAGATCTCAGTAAATATAAAGAAAATAAG | TTTGGATTTAGGTGG c.480
K E Y C I A D L S K Y K E N K | F G F R W p.160
. . . | 09 . . . g.22242
CGAGTAGAAAAAGAAGTAATTTCAGGAAAAG | GTCAATTTTTCTGTGGAAATAAATATTGT c.540
R V E K E V I S G K G | Q F F C G N K Y C p.180
. . . . . . g.22302
GATAAAAAAGAAGGCTTAAAGAGTTGGGAAGTTAATTTTGGTTATATTGAGCATGGTGAG c.600
D K K E G L K S W E V N F G Y I E H G E p.200
. . | 10 . . . . g.23509
AAGAGAAATGCACTTGTTAAATTAA | GGTTATGCCAAGAATGTTCCATTAAATTAAATTTC c.660
K R N A L V K L R | L C Q E C S I K L N F p.220
| 11 . . . . . g.26026
CATCACAG | GAGAAAAGAAATCAAGTCAAAAAAAAGAAAAGATAAAACCAAAAAAGACTGT c.720
H H R | R K E I K S K K R K D K T K K D C p.240
. . . . . . g.26086
GAAGAGTCATCACATAAAAAATCCAGATTATCTTCTGCAGAAGAGGCCTCCAAGAAAAAA c.780
E E S S H K K S R L S S A E E A S K K K p.260
| 12. . . . | 13 . . g.36738
GATAAAG | GACATTCATCTTCAAAGAAATCTGAAGATTCTCTACTTA | GAAACTCTGATGAG c.840
D K G | H S S S K K S E D S L L R | N S D E p.280
. . . . . . g.36798
GAAGAAAGTGCTTCAGAATCTGAACTTTGGAAGGGTCCACTACCAGAGACAGATGAAAAA c.900
E E S A S E S E L W K G P L P E T D E K p.300
| 14 . . . . g.37759
TCACA | GGAAGAAGAATTTGATGAGTATTTTCAGGATTTGTTTCTATGA c.948
S Q | E E E F D E Y F Q D L F L X p.315
. . . . . . g.37819
gacgagagagagaagcctccgctccttaatgtgaaacttcatgaagttttaaacttcatg c.*60
. . . . . . g.37879
caatttgaaattccatataagtttttatctgcaagttacagcttgtgtggtttgtctttg c.*120
. . . . . . g.37939
gaaataaaaatccaggttctctcagaatgtcagaggctttggaagttcattagttcaatt c.*180
. . . . . . g.37999
aaagactttcctgtcctttaaatatcttttcaattgcttatctacaattctgttttattt c.*240
. . . . . . g.38059
gtagctcctagaggatagagctggacagattccattgttcctacattttgtaggtttttt c.*300
. . . . . . g.38119
ttcactgccttcattatgtatcttctcttgccttcattattttattttattatttcttct c.*360
. . . . . . g.38179
ttttctcttttttagagccaccaatactggatttgtttgtttttcatttttttcttttgt c.*420
. . . . . . g.38239
ggaaacggagtcctcctgtgttgcccaggctggtattcaaactcctggccttatgcattc c.*480
. . . . . . g.38299
ctcccaccctggcctcccagagtgctgggattacaggtgtgagccaccatgctctgccaa c.*540
. . . . . . g.38359
ttattttaaattactaggattaaagtatattatgtatgtctttaacttctttctttccca c.*600
. . . . . . g.38419
ttgataaactggcacccttcttttaagtacctgctctcccattaccacctatttccagct c.*660
. . . . . . g.38479
gctttttgaggttttttgcttgcctgtctcttgcttccttcttaacctctaccacttaag c.*720
. . . . . . g.38539
agagtttgttataatcaaatttgacttcctagcctgtggataatttactattaagtaaat c.*780
. . . . . . g.38599
tattaccacagggagccagtgaggtcccagtagtctaaaacagttcatgtgttcacaaaa c.*840
. . . . . . g.38659
attgcctccccggcagagattatgcagtaagataatttaactgaataatactatgtgcat c.*900
. . . . . . g.38719
gtatcttgcctcagatatactcatgcaaatatgaatatacctctgatatggtttggctct c.*960
. . . . . . g.38779
gtgtccccacccaaatctcatcttgaatgtgtactcccataattcccacattttatagga c.*1020
. . . . . . g.38839
gggatccagtgagagataatttgaatcaagggggcggtttcccccatattgttcttgtgg c.*1080
. . . . . . g.38899
tagtgaataagtctcacaagatctgatggttttatcaggggcttctgcttttgcatcctt c.*1140
. . . . . . g.38959
ctcattttcttttgctgctgccatgtaagaagtgccttttgcctcccaccatgattctga c.*1200
. . . . . . g.39019
ggctttcccagccatgtggaactgtaagtccaattaaacctctttttcttccccagtctc c.*1260
. . . . . . g.39079
tggtatgtctttatcagcagtgtgaaaatggactaatagaacttctatgcagaaatataa c.*1320
. . . . . . g.39139
aatgtaacttcttaacataaggtcctagtcgcaagggtctatggaggtgcttcaggagat c.*1380
. . . . . . g.39199
ccaagcctttttagaatctgtgcaaacttctgtgtatgttttttggaggaaaagtccata c.*1440
. . . . . . g.39259
aatttcaaattttcaaaaatcagattttcaaaaggatttattgatttctgaaaactagca c.*1500
. . . . . . g.39319
aagatctgcttttataaagagcaaatagatggatagatataggagaagatgcttgacttg c.*1560
. . . . . . g.39379
atgaataagagaaaggacatatagaaaatgaactgaacataagcaagtattttattgaag c.*1620
. . . . . . g.39439
atatactattttaaataacatttaaacacggaatgattggcaataaactgcaaaatgagt c.*1680
. . . . . . g.39499
aatttggtatcattttaaaatggttattatcagagattttccttttattaaacagttatt c.*1740
. . . . . . g.39559
cattaattccacaaatatttatcaggcttctattatatgtgaggcactgagctgggcatg c.*1800
. . . . . . g.39619
gctgtaaaggaaccatctaggaagtaattatgcaatcatttctgaacctgtttcagaaaa c.*1860
. . . . . . g.39679
gtaaatcagtgttgggtttatcagtgtttaacattgtttgatagtcccctcacttcttga c.*1920
. . g.39702
ataaattgttttttttcacctca c.*1943
(downstream sequence)
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