Canonical Allele Identifier: CA549707243
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1273816704
gnomAD v2: 4-4864558-C-CGA
MyVariant Identifiers: chr4:g.4864558_4864559insGA (hg19) chr4:g.4862831_4862832insGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862833_4862834dup , CM000666.2:g.4862833_4862834dup GRCh38
NC_000004.11:g.4864560_4864561dup , CM000666.1:g.4864560_4864561dup GRCh37
NC_000004.10:g.4915461_4915462dup NCBI36
NG_008121.1:g.8169_8170dup

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.602_603dup MANE Select ENSP00000372170.4:p.Arg202SerfsTer16
ENST00000382723.4:c.602_603dup ENSP00000372170.4:p.Arg202SerfsTer16
ENST00000468421.1:n.314_315dup
NM_002448.3:c.602_603dup MANE Select NP_002439.2:p.Arg202SerfsTer16
Search 100 bp 5'
Search 100 bp 3'