(used for variant description)
(last modified February 4, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_174978.2 in the C14orf39 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering C14orf39 transcript NM_174978.2.
(upstream sequence)
. . . . . g.5050
ccggggaccgtttgtagttaggatccgctgtggcgtcctgagtggagttt c.-61
. . . . . . | 02 g.5968
gggaccccagggagggagggtgtgggcgttcgggtccagaggagctgtttag | tatccaag c.-1
. . . . | 03 . g.6120
ATGAATGACAGCCTGTTTGTCAGTTTGGACAGACTTTTGCTAGAATTTG | TCTTCCAGTAT c.60
M N D S L F V S L D R L L L E F V | F Q Y p.20
. . . . | 04 . . g.7243
GAGCAAGACATAAGTACTAAAGAAGAGATGATTCAAAGAATTAATA | AATGCTGTGAAGAT c.120
E Q D I S T K E E M I Q R I N K | C C E D p.40
. . . . . . g.7303
ATTAAGGAAAACAAAGTAACTATTTGTAGGATACACGAAACTATAAATGCAACAGATGAG c.180
I K E N K V T I C R I H E T I N A T D E p.60
. . . . . | 05 . g.12664
GAAATTGATCATTACTGTAAACATAGTGAGGAGATTAAAGACAACTGTAGAAA | CTGGAAG c.240
E I D H Y C K H S E E I K D N C R N | W K p.80
. . . . . . g.12724
CCAACATGTGATGTTTTTCGTAAACATGAAGATTATATGCAGGACCAATTTACTGTTTAT c.300
P T C D V F R K H E D Y M Q D Q F T V Y p.100
. . | 06 . . . . g.19344
CAAGGAACTGTTGAAAAAGACAA | AGAAATGTATCATGATTATATATGTCAGTATAAAGAA c.360
Q G T V E K D K | E M Y H D Y I C Q Y K E p.120
. . . . . . g.19404
GTTTTGAAGCAGTACCAACTAAAATACTCAGAAACACCCTTTTCACGTGAATATTATGAG c.420
V L K Q Y Q L K Y S E T P F S R E Y Y E p.140
. . . . . . g.19464
AAGAAAAGAGAACATGAAGAAATTCAAAGCAGAGTGTTGGCATGTACTGAACAATTAAAA c.480
K K R E H E E I Q S R V L A C T E Q L K p.160
. . . | 07 . . . g.19616
ATGAATGAAACAATTTTTATGAAATTTCGAG | TGCCTGCTCCCTTTCCATCACTTACTAAA c.540
M N E T I F M K F R V | P A P F P S L T K p.180
. | 08 . . . . . g.21439
TGGACTTTAAACAT | TGTTAATTTGAGATGTGAAACACAAGATATTCTTAAACATGCCAGC c.600
W T L N I | V N L R C E T Q D I L K H A S p.200
. . . . . . g.21499
AATCTTACCAAAAGTTCATCCGAATTGAAGAAAGAAGTAGATGAAATGGAAATAGAAATT c.660
N L T K S S S E L K K E V D E M E I E I p.220
. | 09 . . . . . g.22555
AATTATTTAAACCAG | CAGATATCTAGGCATAATGAAACTAAGGCTCTTTCAGAAACTCTG c.720
N Y L N Q | Q I S R H N E T K A L S E T L p.240
. . . . | 10. . g.24015
GAAGAAAAGAACAAAAATACAGAAAACAGAAAAGAACTGAAAGAAAG | AATTTTTGGAAAA c.780
E E K N K N T E N R K E L K E R | I F G K p.260
. . . . . . g.24075
GATGAGCATGTACTTACATTGAATAAAACTCAAAGCAGTCAATTATTTCTTCCTTATGAA c.840
D E H V L T L N K T Q S S Q L F L P Y E p.280
. . . . . | 11 . g.24996
TCTCAGAAATTAGTAAGACCAATAAAGATGCATTCTTCAGAACCAAGAGTTGCAG | ATATA c.900
S Q K L V R P I K M H S S E P R V A D | I p.300
. . . . . . g.25056
AAAGAAGAAAGTTCTGCGAAGCAGTCAAAGCTTGCCAATATTGACTTTAGACAAAAAGAA c.960
K E E S S A K Q S K L A N I D F R Q K E p.320
. | 12 . . . . . g.29501
AATGATACACAG | ATATTTAATGACTCTGCTGTGGATAACCATTCAAAATGTTCACATATT c.1020
N D T Q | I F N D S A V D N H S K C S H I p.340
. . . | 13 . . g.29656
ACGACTATCACAAGTTCACAAAAGTTTATGCAAGTCAG | ATTGTTAACCCCACAGAAACAA c.1080
T T I T S S Q K F M Q V R | L L T P Q K Q p.360
. . . | 14. . . g.32330
TCAAATTCCAATCAGTGGTCGGAAAAAGGGGATAAAG | ATGCTGAGTATGGAGATAAAGGG c.1140
S N S N Q W S E K G D K D | A E Y G D K G p.380
. . . | 15 . . g.33972
ACAGTAAGACAAGTAAGAGAATCAAAATGTACTTCACAA | GCTATATATACTGAACATTTT c.1200
T V R Q V R E S K C T S Q | A I Y T E H F p.400
. . . . . . g.34032
GGGAAGTCAGTAGAAAATGATAGTGATGAAGTAGAAGAGAGAGCTGAGAATTTTCCACGA c.1260
G K S V E N D S D E V E E R A E N F P R p.420
. . . . . . g.34092
ACGTCTGAAATTCCTATATTTTTAGGAACTCCCAAAGCTGTGAAAGCACCTGAGTCATTG c.1320
T S E I P I F L G T P K A V K A P E S L p.440
. . . | 16 . . g.35923
GAGAAAATAAAATTCCCTAAAACCCCCCCGTTCGAAAT | TAACAGAAATAGAAATGCAGTA c.1380
E K I K F P K T P P F E I | N R N R N A V p.460
. . . . . . g.35983
CCTGAAGTTCAAACAGAAAAGGAATCCCCTGGACTTTCTTTTCTTATGAGTTATACTTCT c.1440
P E V Q T E K E S P G L S F L M S Y T S p.480
. . . . . . g.36043
AGATCACCTGGATTGAATTTATTTGATTCTTCTGTATTTGATACAGAAATCTCATCAGAT c.1500
R S P G L N L F D S S V F D T E I S S D p.500
| 17 . . . . . . g.48972
CAG | TTTAATGAACATTATTCTGCAAGAAATCTAAATCCTCTGTCATCAGAGCAAGAGATT c.1560
Q | F N E H Y S A R N L N P L S S E Q E I p.520
| 18 . . . . . . g.54058
G | GAAACTTACTTGAGAAGCCAGAAGGAGAAGATGGCTTTACATTTTCTTTTCCATCAGAC c.1620
G | N L L E K P E G E D G F T F S F P S D p.540
. . . . . . g.54118
ACTTCAACTCATACATTTGGAGCTGGAAAAGATGATTTTAGTTTTCCATTTTCATTTGGA c.1680
T S T H T F G A G K D D F S F P F S F G p.560
. . . . . . g.54178
CAGGGTCAAAATTCAATACCTTCTTCTTCTTTAAAAGGTTTTTCATCTTCCTCACAAAAT c.1740
Q G Q N S I P S S S L K G F S S S S Q N p.580
. . g.54202
ACAACACAGTTTACTTTTTTTTGA c.1764
T T Q F T F F X p.587
. . . . . . g.54262
gctagtcattaattccttaaattattttactgttctgtgttcatgagggcataaatttac c.*60
. . . . . . g.54322
attattgcttaaaacatgaagactgctttcttttattgattaaagcagtaatgtttacat c.*120
. . . . . . g.54382
tatttgattatatttattgaaatattgaaatactgaatattttgggttttgtgtgtgcta c.*180
. . . . . . g.54442
ttaactaatcattatttattttggttttgattttgcgagccgtggtcaggtagaactttt c.*240
. . . . . . g.54502
attaatcttaatagaatttgatgcttttttcattactctttatttaaatattaagcctgc c.*300
. . . . . . g.54562
ttctccttggaacctaaggtttttttctggaagtattgttggtactttgataagaacaag c.*360
. . . . . . g.54622
aactgcagtagtaactccagagttagtgctgaagcgtactttagctactaaaaatttcta c.*420
. . . . . . g.54682
ttaaaattattgggtttcacttctgcttcactatgtagtatacagagtggtactgtaata c.*480
. . . . . . g.54742
ataatttcaaataatttatgttaataacaaaatctgtgttattttcttctaatataacac c.*540
. . . . . . g.54802
atggtacaattctaattttatgagttatgctaatgctttcaatggctaaaaattaaatgt c.*600
. . . . . . g.54862
aaagggcaagagtaatttctgaaaattggattgttgtatcagtggtgatcctgttaatat c.*660
. . . . . . g.54922
tcttttttgcttaaatattttttgaagaacatttacaattttgtctccttcaataacaaa c.*720
. . . . . . g.54982
aatttcttctttatgttttgtgttcagtatttgtcaattaattatatagcttaagtgaag c.*780
. . . . . . g.55042
atatttaagatttgatgaacttctgtaaacattttgctcaatatcattgtattttgtgct c.*840
. . . . g.55091
ttgtaaattagctgtactgagttaccaagtaataaagggtttgactcca c.*889
(downstream sequence)
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