Canonical Allele Identifier: CA2633375704

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56902514-GAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902515_56902517del , CM000678.2:g.56902515_56902517del	GRCh38
NC_000016.9:g.56936427_56936429del , CM000678.1:g.56936427_56936429del	GRCh37
NC_000016.8:g.55493928_55493930del	NCBI36
NG_009386.1:g.42309_42311del
NG_009386.2:g.42309_42311del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2856+7_2856+9del MANE Select	ENSP00000456149.2:n.2856+7_2856+9del
ENST00000262502.5:c.2853+7_2853+9del	ENSP00000262502.5:n.2853+7_2853+9del
ENST00000438926.6:c.2883+7_2883+9del	ENSP00000402152.2:n.2883+7_2883+9del
ENST00000563236.5:c.2856+7_2856+9del	ENSP00000456149.1:n.2856+7_2856+9del
ENST00000566786.5:c.2880+7_2880+9del	ENSP00000457552.1:n.2880+7_2880+9del
ENST00000569002.1:n.287+7_287+9del
NM_000339.2:c.2883+7_2883+9del	NP_000330.2:n.2883+7_2883+9del
NM_001126107.1:c.2880+7_2880+9del	NP_001119579.1:n.2880+7_2880+9del
NM_001126108.1:c.2856+7_2856+9del	NP_001119580.1:n.2856+7_2856+9del
XM_005256119.1:c.2853+7_2853+9del	XP_005256176.1:n.2853+7_2853+9del
XM_005256119.2:c.2853+7_2853+9del	XP_005256176.1:n.2853+7_2853+9del
NM_000339.3:c.2883+7_2883+9del	NP_000330.3:n.2883+7_2883+9del
NM_001126107.2:c.2880+7_2880+9del	NP_001119579.2:n.2880+7_2880+9del
NM_001126108.2:c.2856+7_2856+9del MANE Select	NP_001119580.2:n.2856+7_2856+9del