Canonical Allele Identifier: CA2739266781

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2869299
• ClinVar RCV Id: RCV003705463

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894604del , CM000678.2:g.56894604del	GRCh38
NC_000016.9:g.56928516del , CM000678.1:g.56928516del	GRCh37
NC_000016.8:g.55486017del	NCBI36
NG_009386.1:g.34398del
NG_009386.2:g.34398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2595del MANE Select	ENSP00000456149.2:p.Gly866AlafsTer18
ENST00000262502.5:c.2592del	ENSP00000262502.5:p.Gly865AlafsTer18
ENST00000438926.6:c.2622del	ENSP00000402152.2:p.Gly875AlafsTer18
ENST00000563236.5:c.2595del	ENSP00000456149.1:p.Gly866AlafsTer18
ENST00000566786.5:c.2619del	ENSP00000457552.1:p.Gly874AlafsTer18
NM_000339.2:c.2622del	NP_000330.2:p.Gly875AlafsTer18
NM_001126107.1:c.2619del	NP_001119579.1:p.Gly874AlafsTer18
NM_001126108.1:c.2595del	NP_001119580.1:p.Gly866AlafsTer18
XM_005256119.1:c.2592del	XP_005256176.1:p.Gly865AlafsTer18
XM_005256119.2:c.2592del	XP_005256176.1:p.Gly865AlafsTer18
NM_000339.3:c.2622del	NP_000330.3:p.Gly875AlafsTer18
NM_001126107.2:c.2619del	NP_001119579.2:p.Gly874AlafsTer18
NM_001126108.2:c.2595del MANE Select	NP_001119580.2:p.Gly866AlafsTer18