Canonical Allele Identifier: CA2499223597

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1073479
• ClinVar RCV Id: RCV001386501 ; RCV001831394
• dbSNP Id: rs2144723594
• gnomAD v4: 16-56884182-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884184_56884185del , CM000678.2:g.56884184_56884185del	GRCh38
NC_000016.9:g.56918096_56918097del , CM000678.1:g.56918096_56918097del	GRCh37
NC_000016.8:g.55475597_55475598del	NCBI36
NG_009386.1:g.23978_23979del
NG_009386.2:g.23978_23979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1805_1806del MANE Select	ENSP00000456149.2:p.Tyr602CysfsTer?
ENST00000262502.5:c.1802_1803del	ENSP00000262502.5:p.Tyr601CysfsTer?
ENST00000438926.6:c.1805_1806del	ENSP00000402152.2:p.Tyr602CysfsTer?
ENST00000563236.5:c.1805_1806del	ENSP00000456149.1:p.Tyr602CysfsTer?
ENST00000566786.5:c.1802_1803del	ENSP00000457552.1:p.Tyr601CysfsTer?
NM_000339.2:c.1805_1806del	NP_000330.2:p.Tyr602CysfsTer?
NM_001126107.1:c.1802_1803del	NP_001119579.1:p.Tyr601CysfsTer?
NM_001126108.1:c.1805_1806del	NP_001119580.1:p.Tyr602CysfsTer?
XM_005256119.1:c.1802_1803del	XP_005256176.1:p.Tyr601CysfsTer?
XM_005256119.2:c.1802_1803del	XP_005256176.1:p.Tyr601CysfsTer?
NM_000339.3:c.1805_1806del	NP_000330.3:p.Tyr602CysfsTer?
NM_001126107.2:c.1802_1803del	NP_001119579.2:p.Tyr601CysfsTer?
NM_001126108.2:c.1805_1806del MANE Select	NP_001119580.2:p.Tyr602CysfsTer?