Canonical Allele Identifier: CA2224364974

Gene: SLC12A3

Linked Data

• dbSNP Id: rs113468906
• gnomAD v3: 16-56902766-GTCCTCCTCCTCC-G
• gnomAD v4: 16-56902766-GTCCTCCTCCTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902779_56902790del , CM000678.2:g.56902779_56902790del	GRCh38
NC_000016.9:g.56936691_56936702del , CM000678.1:g.56936691_56936702del	GRCh37
NC_000016.8:g.55494192_55494203del	NCBI36
NG_009386.1:g.42573_42584del
NG_009386.2:g.42573_42584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+271_2856+282del MANE Select	ENSP00000456149.2:n.2856+271_2856+282del
ENST00000262502.5:c.2853+271_2853+282del	ENSP00000262502.5:n.2853+271_2853+282del
ENST00000438926.6:c.2883+271_2883+282del	ENSP00000402152.2:n.2883+271_2883+282del
ENST00000563236.5:c.2856+271_2856+282del	ENSP00000456149.1:n.2856+271_2856+282del
ENST00000566786.5:c.2880+271_2880+282del	ENSP00000457552.1:n.2880+271_2880+282del
ENST00000569002.1:n.287+271_287+282del
NM_000339.2:c.2883+271_2883+282del	NP_000330.2:n.2883+271_2883+282del
NM_001126107.1:c.2880+271_2880+282del	NP_001119579.1:n.2880+271_2880+282del
NM_001126108.1:c.2856+271_2856+282del	NP_001119580.1:n.2856+271_2856+282del
XM_005256119.1:c.2853+271_2853+282del	XP_005256176.1:n.2853+271_2853+282del
XM_005256119.2:c.2853+271_2853+282del	XP_005256176.1:n.2853+271_2853+282del
NM_000339.3:c.2883+271_2883+282del	NP_000330.3:n.2883+271_2883+282del
NM_001126107.2:c.2880+271_2880+282del	NP_001119579.2:n.2880+271_2880+282del
NM_001126108.2:c.2856+271_2856+282del MANE Select	NP_001119580.2:n.2856+271_2856+282del