Canonical Allele Identifier: CA698924216

Gene: FAM124A

Linked Data

• dbSNP Id: rs1337013510
• gnomAD v3: 13-51250237-ACAC-A
• gnomAD v4: 13-51250237-ACAC-A
• MyVariant Identifiers: chr13:g.51824374_51824376del (hg19) ; chr13:g.51250238_51250240del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51250241_51250243del , CM000675.2:g.51250241_51250243del	GRCh38
NC_000013.10:g.51824377_51824379del , CM000675.1:g.51824377_51824379del	GRCh37
NC_000013.9:g.50722378_50722380del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322475.13:c.101-1227_101-1225del MANE Select	ENSP00000324625.8:n.101-1227_101-1225del
ENST00000280057.6:c.209-1227_209-1225del	ENSP00000280057.6:n.209-1227_209-1225del
ENST00000322475.12:c.101-1227_101-1225del	ENSP00000324625.7:n.101-1227_101-1225del
ENST00000614765.4:c.101-1227_101-1225del	ENSP00000483855.1:n.101-1227_101-1225del
ENST00000615498.4:c.101-1227_101-1225del	ENSP00000481212.1:n.101-1227_101-1225del
NM_001242312.1:c.101-1227_101-1225del	NP_001229241.1:n.101-1227_101-1225del
NM_145019.3:c.209-1227_209-1225del	NP_659456.3:n.209-1227_209-1225del
XM_011534974.1:c.89-1227_89-1225del	XP_011533276.1:n.89-1227_89-1225del
XM_011534975.1:c.89-1227_89-1225del	XP_011533277.1:n.89-1227_89-1225del
XM_011534976.1:c.89-1227_89-1225del	XP_011533278.1:n.89-1227_89-1225del
XM_011534977.1:c.89-1227_89-1225del	XP_011533279.1:n.89-1227_89-1225del
XM_011534978.1:c.209-1227_209-1225del	XP_011533280.1:n.209-1227_209-1225del
XM_011534979.1:c.209-1227_209-1225del	XP_011533281.1:n.209-1227_209-1225del
XM_011534980.1:c.209-1227_209-1225del	XP_011533282.1:n.209-1227_209-1225del
NM_001330522.1:c.101-1227_101-1225del	NP_001317451.1:n.101-1227_101-1225del
XM_011534978.2:c.209-1227_209-1225del	XP_011533280.1:n.209-1227_209-1225del
XM_017020419.2:c.101-1227_101-1225del	XP_016875908.1:n.101-1227_101-1225del
NM_001242312.2:c.101-1227_101-1225del MANE Select	NP_001229241.1:n.101-1227_101-1225del
NM_145019.4:c.209-1227_209-1225del	NP_659456.3:n.209-1227_209-1225del
NM_001330522.2:c.101-1227_101-1225del	NP_001317451.1:n.101-1227_101-1225del