Canonical Allele Identifier: CA913109522

Linked Data

MyVariant Identifiers: chr6:g.131902424dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131581284dup , CM000668.2:g.131581284dup GRCh38
NC_000006.11:g.131902424dup , CM000668.1:g.131902424dup GRCh37
NC_000006.10:g.131944117dup NCBI36
NG_007086.2:g.13060dup
NG_031860.1:g.51940dup
NG_031860.2:g.51940dup

Transcript Alleles

HGVS Amino-acid change
ENST00000368087.8:c.371dup (ARG1) MANE Select ENSP00000357066.3:p.Asp124GlufsTer5
ENST00000640973.1:c.371dup (ARG1) ENSP00000492623.1:p.Asp124GlufsTer5
ENST00000672233.1:c.317dup (ARG1) ENSP00000499826.1:p.Asp106GlufsTer5
ENST00000673234.1:c.*258dup (ARG1) ENSP00000499885.1:n.*258dup
ENST00000673427.1:c.306-1776dup (ARG1) ENSP00000500160.1:n.306-1776dup
ENST00000275196.5:n.355dup (ARG1)
ENST00000354577.8:c.4095+6425dup (MED23) ENSP00000346588.4:n.4095+6425dup
ENST00000356962.2:c.395dup (ARG1) ENSP00000349446.2:p.Asp132GlufsTer5
ENST00000368087.7:c.371dup (ARG1) ENSP00000357066.3:p.Asp124GlufsTer5
NM_000045.3:c.371dup (ARG1) NP_000036.2:p.Asp124GlufsTer5
NM_001244438.1:c.395dup (ARG1) NP_001231367.1:p.Asp132GlufsTer5
NM_001270521.1:c.4077+6425dup (MED23) NP_001257450.1:n.4077+6425dup
NM_015979.3:c.4095+6425dup (MED23) NP_057063.2:n.4095+6425dup
XM_011535801.1:c.306-1776dup (ARG1) XP_011534103.1:n.306-1776dup
XM_011535801.2:c.306-1776dup (ARG1) XP_011534103.1:n.306-1776dup
NM_000045.4:c.371dup (ARG1) MANE Select NP_000036.2:p.Asp124GlufsTer5
NM_001244438.2:c.395dup (ARG1) NP_001231367.1:p.Asp132GlufsTer5
NM_001270521.2:c.4077+6425dup (MED23) NP_001257450.1:n.4077+6425dup
NM_001369020.1:c.306-1776dup (ARG1) NP_001355949.1:n.306-1776dup
NM_015979.4:c.4095+6425dup (MED23) NP_057063.2:n.4095+6425dup
NR_160934.1:n.355dup (ARG1)