(used for variant description)
(last modified May 16, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_032180.2 in the FAM161A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering FAM161A transcript NM_032180.2.
(upstream sequence)
. . . . g.5042
atagcaaccggctccctagctaggcgcccccgggttgccagg c.-61
. . . . . . g.5102
ggccgcaccagctttcccgtcccgggccagcgcaggcgctcaggcctcggaggcggggcg c.-1
. . . . . . g.5162
ATGGCCACCTCCCACCGAGTGGCGAAGCTGGTGGCCTCCAGTCTCCAGACCCCGGTAAAT c.60
M A T S H R V A K L V A S S L Q T P V N p.20
. . . . . . g.5222
CCCATCACTGGAGCGCGGGTCGCCCAGTACGAACGCGAAGACCCCTTAAAGGCCCTGGCG c.120
P I T G A R V A Q Y E R E D P L K A L A p.40
. . . . . . g.5282
GCAGCGGAGGCGATCTTGGAGGACGAAGAGGAGGAGAAAGTGGCTCAGCCCGCTGGGGCA c.180
A A E A I L E D E E E E K V A Q P A G A p.60
| 02 . . . . . . g.16840
TCG | GCTGATTTGAACACCAGCTTTTCTGGGGTGGATGAACATGCACCGATAAGCTATGAG c.240
S | A D L N T S F S G V D E H A P I S Y E p.80
. . . . . . g.16900
GACTTTGTGAACTTTCCTGATATTCACCACTCTAATGAGGAGTATTTCAAGAAAGTAGAA c.300
D F V N F P D I H H S N E E Y F K K V E p.100
. . . . . . g.16960
GAGTTGAAGGCTGCCCACATAGAAACTATGGCAAAATTAGAGAAAATGTACCAGGATAAA c.360
E L K A A H I E T M A K L E K M Y Q D K p.120
. . . . . . g.17020
TTACATTTAAAGGAAGTTCAGCCAGTGGTCATCAGAGAAGACTCTCTTAGTGACTCTTCC c.420
L H L K E V Q P V V I R E D S L S D S S p.140
| 03 . . . . . . g.18620
AG | ATCTGTATCAGAAAAGAACTCCTATCACCCTGTCTCATTAATGACATCATTTTCAGAG c.480
R | S V S E K N S Y H P V S L M T S F S E p.160
. . . . . . g.18680
CCTGATTTAGGCCAGTCTTCCTCCTTGTATGTGTCCTCCTCTGAAGAGGAGTTACCCAAC c.540
P D L G Q S S S L Y V S S S E E E L P N p.180
. . . . . . g.18740
CTAGAAAAAGAGTATCCTAGGAAAAACAGAATGATGACCTATGCTAAGGAGCTCATCAAC c.600
L E K E Y P R K N R M M T Y A K E L I N p.200
. . . . . . g.18800
AATATGTGGACAGACTTTTGTGTTGAGGATTATATTCGCTGTAAAGATACTGGCTTCCAT c.660
N M W T D F C V E D Y I R C K D T G F H p.220
. . . . . . g.18860
GCAGCTGAAAAAAGAAGGAAGAAACGAAAAGAATGGGTGCCCACAATTACAGTACCGGAG c.720
A A E K R R K K R K E W V P T I T V P E p.240
. . . . . . g.18920
CCTTTTCAAATGATGATAAGAGAACAGAAGAAAAAAGAAGAGTCCATGAAATCTAAATCA c.780
P F Q M M I R E Q K K K E E S M K S K S p.260
. . . . . . g.18980
GATATCGAAATGGTACATAAAGCGCTCAAAAAACAAGAAGAGGATCCAGAGTATAAGAAG c.840
D I E M V H K A L K K Q E E D P E Y K K p.280
. . . . . . g.19040
AAATTCCGAGCCAATCCAGTTCCTGCATCTGTCTTTCTCCCCCTTTACCATGATTTAGTC c.900
K F R A N P V P A S V F L P L Y H D L V p.300
. . . . . . g.19100
AAGCAAAAAGAAGAACGGAGAAGGTCTCTGAAGGAGAAAAGCAAAGAAGCTCTTTTGGCC c.960
K Q K E E R R R S L K E K S K E A L L A p.320
. . . . . . g.19160
TCACAAAAGCCATTTAAATTTATAGCAAGGGAGGAACAGAAGCGAGCAGCCCGGGAAAAG c.1020
S Q K P F K F I A R E E Q K R A A R E K p.340
. . . . . . g.19220
CAGCTGAGAGACTTTCTTAAGTATAAAAAGAAAACAAATCGATTTAAAGCCAGACCCATT c.1080
Q L R D F L K Y K K K T N R F K A R P I p.360
. . . . . . g.19280
CCTCGATCTACTTATGGTTCAACTACCAATGACAAGTTAAAAGAAGAAGAGCTCTATCGA c.1140
P R S T Y G S T T N D K L K E E E L Y R p.380
. . . . . . g.19340
AACCTTAGGACACAGCTGAGAGCCCAGGAGCATTTACAGAACTCATCTCCTCTGCCTTGT c.1200
N L R T Q L R A Q E H L Q N S S P L P C p.400
. . . . . . g.19400
AGGTCAGCTTGTGGATGCAGGAACCCCAGGTGTCCTGAACAGGCTGTAAAGTTGAAGTGT c.1260
R S A C G C R N P R C P E Q A V K L K C p.420
. . . . . . g.19460
AAACACAAGGTTAGGTGCCCAACTCCTGATTTTGAGGACCTTCCTGAGAGATACCAGAAA c.1320
K H K V R C P T P D F E D L P E R Y Q K p.440
. . . . . . g.19520
CACCTCTCAGAACACAAGTCTCCAAAACTCTTAACAGTGTGTAAACCATTTGATCTTCAT c.1380
H L S E H K S P K L L T V C K P F D L H p.460
. . . . . . g.19580
GCATCTCCACATGCATCTATTAAAAGAGAAAAAATTTTGGCAGACATCGAAGCAGATGAA c.1440
A S P H A S I K R E K I L A D I E A D E p.480
. . . . . . g.19640
GAAAATTTAAAAGAAACACGTTGGCCTTATTTGTCTCCAAGGCGTAAGTCACCAGTAAGA c.1500
E N L K E T R W P Y L S P R R K S P V R p.500
. . . . . . g.19700
TGTGCAGGTGTAAACCCTGTGCCTTGTAACTGCAACCCTCCCGTGCCCACGGTATCTTCC c.1560
C A G V N P V P C N C N P P V P T V S S p.520
. . | 04 . . . . g.23071
AGAGGACGAGAACAAGCCGTAAG | AAAGAGCGAAAAGGAAAGGATGAGAGAATACCAACGA c.1620
R G R E Q A V R | K S E K E R M R E Y Q R p.540
. . . . . . g.23131
GAACTAGAAGAAAGAGAAGAAAAATTAAAAAAGAGGCCACTGCTATTTGAAAGAGTTGCT c.1680
E L E E R E E K L K K R P L L F E R V A p.560
| 05 . . . . . . g.31942
CAG | AAAAATGCAAGAATGGCAGCAGAAAAGCATTATTCTAATACCCTAAAAGCACTAGGA c.1740
Q | K N A R M A A E K H Y S N T L K A L G p.580
. . . . . . g.32002
ATATCTGATGAGTTTGTTTCAAAGAAAGGCCAAAGTGGAAAAGTACTTGAGTACTTCAAC c.1800
I S D E F V S K K G Q S G K V L E Y F N p.600
. . . | 06 . . g.32566
AATCAAGAGACGAAAAGTGTCACTGAAGACAAAGAAAG | CTTTAATGAAGAAGAAAAAATA c.1860
N Q E T K S V T E D K E S | F N E E E K I p.620
. . . . . . g.32626
GAAGAAAGAGAGAATGGGGAAGAAAATTATTTTATTGATACCAACAGCCAGGATTCTTAC c.1920
E E R E N G E E N Y F I D T N S Q D S Y p.640
. . . . . . g.32686
AAGGAAAAAGATGAAGCCAATGAGGAAAGTGAAGAAGAGAAATCTGTTGAAGAATCACAC c.1980
K E K D E A N E E S E E E K S V E E S H p.660
g.32689
TGA c.1983
X p.660
. . . . . . g.32749
atcatcaaggtctcctctctatgcccttgctgttgtttgcagcgtcagggtgtcagcagc c.*60
. . . . . . g.32809
cgcatttgtgtttagaacatctgtggggacgcttctgatatgtgcagggctgttgatcaa c.*120
. . . . . . g.32869
agtcatctgtagcctgaaaagcctgaatccagctgattggtcatttgatcagttagagta c.*180
. . . . . . g.32929
aggctttgcctattcagttttaaaaatcattgtgtattatctgtttgcaactatgatttt c.*240
. . . . . . g.32989
gtatttttaaaaagtgagaaccacagctgtcacaaactgattagttataaaaatatacat c.*300
. . . . . . g.33049
tatttcattaattttactggaaaaaatggcttagtattgaaaggagagagaagtattggt c.*360
. . . . . . g.33109
ctttggtggtttactttttaaaaattttggaaagtgtgaatcaataactatttttaatta c.*420
. . . . . . g.33169
tactatttgcccattctttttctctgcagtgcatttcacagaataaatcctctaacttgt c.*480
. . . . . . g.33229
tttgctgctctgagccatttttaaaagtatagaaaaaacgccgggtatggtggctcatgc c.*540
. . . . . . g.33289
ctgtaatcccagcattttgggaggccgagacgggtggatcacgaggtcaggagatcgaga c.*600
. . . . . . g.33349
ccatcctggctaacacgatgaaaccccgtctctactaaaaatacaaaaaattagccaggc c.*660
. . . . . . g.33409
gtggtggtgggcgcctgtagtcccagctacttgggaggcagaggcaggagaatggcatga c.*720
. . . . . . g.33469
acccaggaggcagagcttgcagtgagccgagatcgcgccactgcactccagcttgggcaa c.*780
. . . . . . g.33529
cagagcgagactccgtctccaaaaaaaaaaaaaaagtatagaaaaaaatggatacttgca c.*840
. . . . . . g.33589
aatttacatttatttttgcactgagagtttactgttaaattgtctacaccatcatccctt c.*900
. . . . . . g.33649
tttctttttatccttagttctagtccaaattatttttgatttgtaaattattaggaaagt c.*960
. . . . . . g.33709
ttttatactagtttttttaaccctatgtattattacagatggaagtaattatggcatgtg c.*1020
. . . . . . g.33769
tgagttataatctaaattaggggcaagtatccctttttttatatgatgaaattgtgcata c.*1080
. . . . . . g.33829
ataacttggctagggcaagtctccaaagtaattcagatttaactcttcactgctagaccc c.*1140
. . . . . . g.33889
agttgtgttcaactttttacatattattgccaacacactttatctctctgtgtacagtgt c.*1200
. . . . . . g.33949
taatctgattttataaatctatatttttttctttaagcaaatttttgttttaaaatttga c.*1260
. . . . . . g.34009
agccaatcataaagataatatagcataagacattttcttttctaaaaacaatcagcatca c.*1320
. . . . . . g.34069
ttttaaaaggatgaactaatacaggtgtatgtaatagcagtgtttccaaactggcaattt c.*1380
. . . . . . g.34129
atgctttaaatttaaaaataaggtcatttttctccatcaggggcaaatgtttacttgtaa c.*1440
. . . . . . g.34189
ttttcttcctacagttcgtgttaaattactttttactattattatattgtaaactccttg c.*1500
. . . . . . g.34249
ggatttggcaccatttaaaaattcatctttgtattcccttaatatttggaacagtattgt c.*1560
. . . . g.34296
acatatggtaggtacttaataaaggtttgaatgagtgtgtagatgaa c.*1607
(downstream sequence)
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