Canonical Allele Identifier: CA2633373044

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56883965-TACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56883976_56884019del , CM000678.2:g.56883976_56884019del	GRCh38
NC_000016.9:g.56917888_56917931del , CM000678.1:g.56917888_56917931del	GRCh37
NC_000016.8:g.55475389_55475432del	NCBI36
NG_009386.1:g.23770_23813del
NG_009386.2:g.23770_23813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1670-73_1670-30del MANE Select	ENSP00000456149.2:n.1670-73_1670-30del
ENST00000262502.5:c.1667-73_1667-30del	ENSP00000262502.5:n.1667-73_1667-30del
ENST00000438926.6:c.1670-73_1670-30del	ENSP00000402152.2:n.1670-73_1670-30del
ENST00000563236.5:c.1670-73_1670-30del	ENSP00000456149.1:n.1670-73_1670-30del
ENST00000566786.5:c.1667-73_1667-30del	ENSP00000457552.1:n.1667-73_1667-30del
NM_000339.2:c.1670-73_1670-30del	NP_000330.2:n.1670-73_1670-30del
NM_001126107.1:c.1667-73_1667-30del	NP_001119579.1:n.1667-73_1667-30del
NM_001126108.1:c.1670-73_1670-30del	NP_001119580.1:n.1670-73_1670-30del
XM_005256119.1:c.1667-73_1667-30del	XP_005256176.1:n.1667-73_1667-30del
XM_005256119.2:c.1667-73_1667-30del	XP_005256176.1:n.1667-73_1667-30del
NM_000339.3:c.1670-73_1670-30del	NP_000330.3:n.1670-73_1670-30del
NM_001126107.2:c.1667-73_1667-30del	NP_001119579.2:n.1667-73_1667-30del
NM_001126108.2:c.1670-73_1670-30del MANE Select	NP_001119580.2:n.1670-73_1670-30del