Canonical Allele Identifier: CA2499223593

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1117911
• ClinVar RCV Id: RCV001446825
• dbSNP Id: rs2144711842

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879235del , CM000678.2:g.56879235del	GRCh38
NC_000016.9:g.56913147del , CM000678.1:g.56913147del	GRCh37
NC_000016.8:g.55470648del	NCBI36
NG_009386.1:g.19029del
NG_009386.2:g.19029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1335+8del MANE Select	ENSP00000456149.2:n.1335+8del
ENST00000262502.5:c.1332+8del	ENSP00000262502.5:n.1332+8del
ENST00000438926.6:c.1335+8del	ENSP00000402152.2:n.1335+8del
ENST00000563236.5:c.1335+8del	ENSP00000456149.1:n.1335+8del
ENST00000566786.5:c.1332+8del	ENSP00000457552.1:n.1332+8del
NM_000339.2:c.1335+8del	NP_000330.2:n.1335+8del
NM_001126107.1:c.1332+8del	NP_001119579.1:n.1332+8del
NM_001126108.1:c.1335+8del	NP_001119580.1:n.1335+8del
XM_005256119.1:c.1332+8del	XP_005256176.1:n.1332+8del
XM_005256119.2:c.1332+8del	XP_005256176.1:n.1332+8del
NM_000339.3:c.1335+8del	NP_000330.3:n.1335+8del
NM_001126107.2:c.1332+8del	NP_001119579.2:n.1332+8del
NM_001126108.2:c.1335+8del MANE Select	NP_001119580.2:n.1335+8del