Canonical Allele Identifier: CA2633374432

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2874198
• ClinVar RCV Id: RCV003712356
• gnomAD v4: 16-56894512-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894516del , CM000678.2:g.56894516del	GRCh38
NC_000016.9:g.56928428del , CM000678.1:g.56928428del	GRCh37
NC_000016.8:g.55485929del	NCBI36
NG_009386.1:g.34310del
NG_009386.2:g.34310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2522-15del MANE Select	ENSP00000456149.2:n.2522-15del
ENST00000262502.5:c.2519-15del	ENSP00000262502.5:n.2519-15del
ENST00000438926.6:c.2549-15del	ENSP00000402152.2:n.2549-15del
ENST00000563236.5:c.2522-15del	ENSP00000456149.1:n.2522-15del
ENST00000566786.5:c.2546-15del	ENSP00000457552.1:n.2546-15del
NM_000339.2:c.2549-15del	NP_000330.2:n.2549-15del
NM_001126107.1:c.2546-15del	NP_001119579.1:n.2546-15del
NM_001126108.1:c.2522-15del	NP_001119580.1:n.2522-15del
XM_005256119.1:c.2519-15del	XP_005256176.1:n.2519-15del
XM_005256119.2:c.2519-15del	XP_005256176.1:n.2519-15del
NM_000339.3:c.2549-15del	NP_000330.3:n.2549-15del
NM_001126107.2:c.2546-15del	NP_001119579.2:n.2546-15del
NM_001126108.2:c.2522-15del MANE Select	NP_001119580.2:n.2522-15del