Canonical Allele Identifier: CA2576002010

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56870569-CTGGGGGAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870570_56870577del , CM000678.2:g.56870570_56870577del	GRCh38
NC_000016.9:g.56904482_56904489del , CM000678.1:g.56904482_56904489del	GRCh37
NC_000016.8:g.55461983_55461990del	NCBI36
NG_009386.1:g.10364_10371del
NG_009386.2:g.10364_10371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.742-56_742-49del MANE Select	ENSP00000456149.2:n.742-56_742-49del
ENST00000262502.5:c.739-56_739-49del	ENSP00000262502.5:n.739-56_739-49del
ENST00000438926.6:c.742-56_742-49del	ENSP00000402152.2:n.742-56_742-49del
ENST00000563236.5:c.742-56_742-49del	ENSP00000456149.1:n.742-56_742-49del
ENST00000566786.5:c.739-56_739-49del	ENSP00000457552.1:n.739-56_739-49del
NM_000339.2:c.742-56_742-49del	NP_000330.2:n.742-56_742-49del
NM_001126107.1:c.739-56_739-49del	NP_001119579.1:n.739-56_739-49del
NM_001126108.1:c.742-56_742-49del	NP_001119580.1:n.742-56_742-49del
XM_005256119.1:c.739-56_739-49del	XP_005256176.1:n.739-56_739-49del
XM_005256119.2:c.739-56_739-49del	XP_005256176.1:n.739-56_739-49del
NM_000339.3:c.742-56_742-49del	NP_000330.3:n.742-56_742-49del
NM_001126107.2:c.739-56_739-49del	NP_001119579.2:n.739-56_739-49del
NM_001126108.2:c.742-56_742-49del MANE Select	NP_001119580.2:n.742-56_742-49del