Canonical Allele Identifier: CA2633375848

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56902522-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902526_56902527del , CM000678.2:g.56902526_56902527del	GRCh38
NC_000016.9:g.56936438_56936439del , CM000678.1:g.56936438_56936439del	GRCh37
NC_000016.8:g.55493939_55493940del	NCBI36
NG_009386.1:g.42320_42321del
NG_009386.2:g.42320_42321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+18_2856+19del MANE Select	ENSP00000456149.2:n.2856+18_2856+19del
ENST00000262502.5:c.2853+18_2853+19del	ENSP00000262502.5:n.2853+18_2853+19del
ENST00000438926.6:c.2883+18_2883+19del	ENSP00000402152.2:n.2883+18_2883+19del
ENST00000563236.5:c.2856+18_2856+19del	ENSP00000456149.1:n.2856+18_2856+19del
ENST00000566786.5:c.2880+18_2880+19del	ENSP00000457552.1:n.2880+18_2880+19del
ENST00000569002.1:n.287+18_287+19del
NM_000339.2:c.2883+18_2883+19del	NP_000330.2:n.2883+18_2883+19del
NM_001126107.1:c.2880+18_2880+19del	NP_001119579.1:n.2880+18_2880+19del
NM_001126108.1:c.2856+18_2856+19del	NP_001119580.1:n.2856+18_2856+19del
XM_005256119.1:c.2853+18_2853+19del	XP_005256176.1:n.2853+18_2853+19del
XM_005256119.2:c.2853+18_2853+19del	XP_005256176.1:n.2853+18_2853+19del
NM_000339.3:c.2883+18_2883+19del	NP_000330.3:n.2883+18_2883+19del
NM_001126107.2:c.2880+18_2880+19del	NP_001119579.2:n.2880+18_2880+19del
NM_001126108.2:c.2856+18_2856+19del MANE Select	NP_001119580.2:n.2856+18_2856+19del