Canonical Allele Identifier: CA2573152372

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1592174
• ClinVar RCV Id: RCV002122179
• dbSNP Id: rs2144732791

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56887911_56887918del , CM000678.2:g.56887911_56887918del	GRCh38
NC_000016.9:g.56921823_56921830del , CM000678.1:g.56921823_56921830del	GRCh37
NC_000016.8:g.55479324_55479331del	NCBI36
NG_009386.1:g.27705_27712del
NG_009386.2:g.27705_27712del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2179-14_2179-7del MANE Select	ENSP00000456149.2:n.2179-14_2179-7del
ENST00000262502.5:c.2176-14_2176-7del	ENSP00000262502.5:n.2176-14_2176-7del
ENST00000438926.6:c.2179-14_2179-7del	ENSP00000402152.2:n.2179-14_2179-7del
ENST00000563236.5:c.2179-14_2179-7del	ENSP00000456149.1:n.2179-14_2179-7del
ENST00000566786.5:c.2176-14_2176-7del	ENSP00000457552.1:n.2176-14_2176-7del
NM_000339.2:c.2179-14_2179-7del	NP_000330.2:n.2179-14_2179-7del
NM_001126107.1:c.2176-14_2176-7del	NP_001119579.1:n.2176-14_2176-7del
NM_001126108.1:c.2179-14_2179-7del	NP_001119580.1:n.2179-14_2179-7del
XM_005256119.1:c.2176-14_2176-7del	XP_005256176.1:n.2176-14_2176-7del
XM_005256119.2:c.2176-14_2176-7del	XP_005256176.1:n.2176-14_2176-7del
NM_000339.3:c.2179-14_2179-7del	NP_000330.3:n.2179-14_2179-7del
NM_001126107.2:c.2176-14_2176-7del	NP_001119579.2:n.2176-14_2176-7del
NM_001126108.2:c.2179-14_2179-7del MANE Select	NP_001119580.2:n.2179-14_2179-7del