Canonical Allele Identifier: CA2633375690

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56902511-GCAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902512_56902515del , CM000678.2:g.56902512_56902515del	GRCh38
NC_000016.9:g.56936424_56936427del , CM000678.1:g.56936424_56936427del	GRCh37
NC_000016.8:g.55493925_55493928del	NCBI36
NG_009386.1:g.42306_42309del
NG_009386.2:g.42306_42309del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2856+4_2856+7del MANE Select	ENSP00000456149.2:n.2856+4_2856+7del
ENST00000262502.5:c.2853+4_2853+7del	ENSP00000262502.5:n.2853+4_2853+7del
ENST00000438926.6:c.2883+4_2883+7del	ENSP00000402152.2:n.2883+4_2883+7del
ENST00000563236.5:c.2856+4_2856+7del	ENSP00000456149.1:n.2856+4_2856+7del
ENST00000566786.5:c.2880+4_2880+7del	ENSP00000457552.1:n.2880+4_2880+7del
ENST00000569002.1:n.287+4_287+7del
NM_000339.2:c.2883+4_2883+7del	NP_000330.2:n.2883+4_2883+7del
NM_001126107.1:c.2880+4_2880+7del	NP_001119579.1:n.2880+4_2880+7del
NM_001126108.1:c.2856+4_2856+7del	NP_001119580.1:n.2856+4_2856+7del
XM_005256119.1:c.2853+4_2853+7del	XP_005256176.1:n.2853+4_2853+7del
XM_005256119.2:c.2853+4_2853+7del	XP_005256176.1:n.2853+4_2853+7del
NM_000339.3:c.2883+4_2883+7del	NP_000330.3:n.2883+4_2883+7del
NM_001126107.2:c.2880+4_2880+7del	NP_001119579.2:n.2880+4_2880+7del
NM_001126108.2:c.2856+4_2856+7del MANE Select	NP_001119580.2:n.2856+4_2856+7del