Canonical Allele Identifier: CA2807160867

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904449del , CM000678.2:g.56904449del	GRCh38
NC_000016.9:g.56938361del , CM000678.1:g.56938361del	GRCh37
NC_000016.8:g.55495862del	NCBI36
NG_009386.1:g.44243del
NG_009386.2:g.44243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2911del MANE Select	ENSP00000456149.2:p.Ala971LeufsTer9
ENST00000262502.5:c.2908del	ENSP00000262502.5:p.Ala970LeufsTer9
ENST00000438926.6:c.2938del	ENSP00000402152.2:p.Ala980LeufsTer9
ENST00000563236.5:c.2911del	ENSP00000456149.1:p.Ala971LeufsTer9
ENST00000566786.5:c.2935del	ENSP00000457552.1:p.Ala979LeufsTer9
ENST00000569002.1:n.342del
NM_000339.2:c.2938del	NP_000330.2:p.Ala980LeufsTer9
NM_001126107.1:c.2935del	NP_001119579.1:p.Ala979LeufsTer9
NM_001126108.1:c.2911del	NP_001119580.1:p.Ala971LeufsTer9
XM_005256119.1:c.2908del	XP_005256176.1:p.Ala970LeufsTer9
XM_005256119.2:c.2908del	XP_005256176.1:p.Ala970LeufsTer9
NM_000339.3:c.2938del	NP_000330.3:p.Ala980LeufsTer9
NM_001126107.2:c.2935del	NP_001119579.2:p.Ala979LeufsTer9
NM_001126108.2:c.2911del MANE Select	NP_001119580.2:p.Ala971LeufsTer9