Canonical Allele Identifier: CA2633378790

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56878987-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56878989del , CM000678.2:g.56878989del	GRCh38
NC_000016.9:g.56912901del , CM000678.1:g.56912901del	GRCh37
NC_000016.8:g.55470402del	NCBI36
NG_009386.1:g.18783del
NG_009386.2:g.18783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1181-84del MANE Select	ENSP00000456149.2:n.1181-84del
ENST00000262502.5:c.1178-84del	ENSP00000262502.5:n.1178-84del
ENST00000438926.6:c.1181-84del	ENSP00000402152.2:n.1181-84del
ENST00000563236.5:c.1181-84del	ENSP00000456149.1:n.1181-84del
ENST00000566786.5:c.1178-84del	ENSP00000457552.1:n.1178-84del
NM_000339.2:c.1181-84del	NP_000330.2:n.1181-84del
NM_001126107.1:c.1178-84del	NP_001119579.1:n.1178-84del
NM_001126108.1:c.1181-84del	NP_001119580.1:n.1181-84del
XM_005256119.1:c.1178-84del	XP_005256176.1:n.1178-84del
XM_005256119.2:c.1178-84del	XP_005256176.1:n.1178-84del
NM_000339.3:c.1181-84del	NP_000330.3:n.1181-84del
NM_001126107.2:c.1178-84del	NP_001119579.2:n.1178-84del
NM_001126108.2:c.1181-84del MANE Select	NP_001119580.2:n.1181-84del