Canonical Allele Identifier: CA2633374288

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56886213-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56886215del , CM000678.2:g.56886215del	GRCh38
NC_000016.9:g.56920127del , CM000678.1:g.56920127del	GRCh37
NC_000016.8:g.55477628del	NCBI36
NG_009386.1:g.26009del
NG_009386.2:g.26009del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.1926-149del MANE Select	ENSP00000456149.2:n.1926-149del
ENST00000262502.5:c.1923-149del	ENSP00000262502.5:n.1923-149del
ENST00000438926.6:c.1926-149del	ENSP00000402152.2:n.1926-149del
ENST00000563236.5:c.1926-149del	ENSP00000456149.1:n.1926-149del
ENST00000566786.5:c.1923-149del	ENSP00000457552.1:n.1923-149del
NM_000339.2:c.1926-149del	NP_000330.2:n.1926-149del
NM_001126107.1:c.1923-149del	NP_001119579.1:n.1923-149del
NM_001126108.1:c.1926-149del	NP_001119580.1:n.1926-149del
XM_005256119.1:c.1923-149del	XP_005256176.1:n.1923-149del
XM_005256119.2:c.1923-149del	XP_005256176.1:n.1923-149del
NM_000339.3:c.1926-149del	NP_000330.3:n.1926-149del
NM_001126107.2:c.1923-149del	NP_001119579.2:n.1923-149del
NM_001126108.2:c.1926-149del MANE Select	NP_001119580.2:n.1926-149del