Canonical Allele Identifier: CA622341918

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1388472053
• gnomAD v2: 16-56936535-TC-T
• gnomAD v3: 16-56902623-TC-T
• gnomAD v4: 16-56902623-TC-T
• MyVariant Identifiers: chr16:g.56936536del (hg19) ; chr16:g.56936537_56936539delinsGG (hg19) ; chr16:g.56902624del (hg38) ; chr16:g.56902625_56902627delinsGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902625del , CM000678.2:g.56902625del	GRCh38
NC_000016.9:g.56936537del , CM000678.1:g.56936537del	GRCh37
NC_000016.8:g.55494038del	NCBI36
NG_009386.1:g.42419del
NG_009386.2:g.42419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+117del MANE Select	ENSP00000456149.2:n.2856+117del
ENST00000262502.5:c.2853+117del	ENSP00000262502.5:n.2853+117del
ENST00000438926.6:c.2883+117del	ENSP00000402152.2:n.2883+117del
ENST00000563236.5:c.2856+117del	ENSP00000456149.1:n.2856+117del
ENST00000566786.5:c.2880+117del	ENSP00000457552.1:n.2880+117del
ENST00000569002.1:n.287+117del
NM_000339.2:c.2883+117del	NP_000330.2:n.2883+117del
NM_001126107.1:c.2880+117del	NP_001119579.1:n.2880+117del
NM_001126108.1:c.2856+117del	NP_001119580.1:n.2856+117del
XM_005256119.1:c.2853+117del	XP_005256176.1:n.2853+117del
XM_005256119.2:c.2853+117del	XP_005256176.1:n.2853+117del
NM_000339.3:c.2883+117del	NP_000330.3:n.2883+117del
NM_001126107.2:c.2880+117del	NP_001119579.2:n.2880+117del
NM_001126108.2:c.2856+117del MANE Select	NP_001119580.2:n.2856+117del