Canonical Allele Identifier: CA2633380128

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56879368-CAGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879369_56879372del , CM000678.2:g.56879369_56879372del	GRCh38
NC_000016.9:g.56913281_56913284del , CM000678.1:g.56913281_56913284del	GRCh37
NC_000016.8:g.55470782_55470785del	NCBI36
NG_009386.1:g.19163_19166del
NG_009386.2:g.19163_19166del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1335+142_1335+145del MANE Select	ENSP00000456149.2:n.1335+142_1335+145del
ENST00000262502.5:c.1332+142_1332+145del	ENSP00000262502.5:n.1332+142_1332+145del
ENST00000438926.6:c.1335+142_1335+145del	ENSP00000402152.2:n.1335+142_1335+145del
ENST00000563236.5:c.1335+142_1335+145del	ENSP00000456149.1:n.1335+142_1335+145del
ENST00000566786.5:c.1332+142_1332+145del	ENSP00000457552.1:n.1332+142_1332+145del
NM_000339.2:c.1335+142_1335+145del	NP_000330.2:n.1335+142_1335+145del
NM_001126107.1:c.1332+142_1332+145del	NP_001119579.1:n.1332+142_1332+145del
NM_001126108.1:c.1335+142_1335+145del	NP_001119580.1:n.1335+142_1335+145del
XM_005256119.1:c.1332+142_1332+145del	XP_005256176.1:n.1332+142_1332+145del
XM_005256119.2:c.1332+142_1332+145del	XP_005256176.1:n.1332+142_1332+145del
NM_000339.3:c.1335+142_1335+145del	NP_000330.3:n.1335+142_1335+145del
NM_001126107.2:c.1332+142_1332+145del	NP_001119579.2:n.1332+142_1332+145del
NM_001126108.2:c.1335+142_1335+145del MANE Select	NP_001119580.2:n.1335+142_1335+145del