Canonical Allele Identifier: CA698924265

Gene: FAM124A

Linked Data

• dbSNP Id: rs1161455174
• gnomAD v3: 13-51250301-CTG-C
• gnomAD v4: 13-51250301-CTG-C
• MyVariant Identifiers: chr13:g.51824438_51824439del (hg19) ; chr13:g.51250302_51250303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51250304_51250305del , CM000675.2:g.51250304_51250305del	GRCh38
NC_000013.10:g.51824440_51824441del , CM000675.1:g.51824440_51824441del	GRCh37
NC_000013.9:g.50722441_50722442del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322475.13:c.101-1164_101-1163del MANE Select	ENSP00000324625.8:n.101-1164_101-1163del
ENST00000280057.6:c.209-1164_209-1163del	ENSP00000280057.6:n.209-1164_209-1163del
ENST00000322475.12:c.101-1164_101-1163del	ENSP00000324625.7:n.101-1164_101-1163del
ENST00000614765.4:c.101-1164_101-1163del	ENSP00000483855.1:n.101-1164_101-1163del
ENST00000615498.4:c.101-1164_101-1163del	ENSP00000481212.1:n.101-1164_101-1163del
NM_001242312.1:c.101-1164_101-1163del	NP_001229241.1:n.101-1164_101-1163del
NM_145019.3:c.209-1164_209-1163del	NP_659456.3:n.209-1164_209-1163del
XM_011534974.1:c.89-1164_89-1163del	XP_011533276.1:n.89-1164_89-1163del
XM_011534975.1:c.89-1164_89-1163del	XP_011533277.1:n.89-1164_89-1163del
XM_011534976.1:c.89-1164_89-1163del	XP_011533278.1:n.89-1164_89-1163del
XM_011534977.1:c.89-1164_89-1163del	XP_011533279.1:n.89-1164_89-1163del
XM_011534978.1:c.209-1164_209-1163del	XP_011533280.1:n.209-1164_209-1163del
XM_011534979.1:c.209-1164_209-1163del	XP_011533281.1:n.209-1164_209-1163del
XM_011534980.1:c.209-1164_209-1163del	XP_011533282.1:n.209-1164_209-1163del
NM_001330522.1:c.101-1164_101-1163del	NP_001317451.1:n.101-1164_101-1163del
XM_011534978.2:c.209-1164_209-1163del	XP_011533280.1:n.209-1164_209-1163del
XM_017020419.2:c.101-1164_101-1163del	XP_016875908.1:n.101-1164_101-1163del
NM_001242312.2:c.101-1164_101-1163del MANE Select	NP_001229241.1:n.101-1164_101-1163del
NM_145019.4:c.209-1164_209-1163del	NP_659456.3:n.209-1164_209-1163del
NM_001330522.2:c.101-1164_101-1163del	NP_001317451.1:n.101-1164_101-1163del