Canonical Allele Identifier: CA2741488986

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56885298_56885300del , CM000678.2:g.56885298_56885300del	GRCh38
NC_000016.9:g.56919210_56919212del , CM000678.1:g.56919210_56919212del	GRCh37
NC_000016.8:g.55476711_55476713del	NCBI36
NG_009386.1:g.25092_25094del
NG_009386.2:g.25092_25094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1859_1861del MANE Select	ENSP00000456149.2:p.Ser620del
ENST00000262502.5:c.1856_1858del	ENSP00000262502.5:p.Ser619del
ENST00000438926.6:c.1859_1861del	ENSP00000402152.2:p.Ser620del
ENST00000563236.5:c.1859_1861del	ENSP00000456149.1:p.Ser620del
ENST00000566786.5:c.1856_1858del	ENSP00000457552.1:p.Ser619del
NM_000339.2:c.1859_1861del	NP_000330.2:p.Ser620del
NM_001126107.1:c.1856_1858del	NP_001119579.1:p.Ser619del
NM_001126108.1:c.1859_1861del	NP_001119580.1:p.Ser620del
XM_005256119.1:c.1856_1858del	XP_005256176.1:p.Ser619del
XM_005256119.2:c.1856_1858del	XP_005256176.1:p.Ser619del
NM_000339.3:c.1859_1861del	NP_000330.3:p.Ser620del
NM_001126107.2:c.1856_1858del	NP_001119579.2:p.Ser619del
NM_001126108.2:c.1859_1861del MANE Select	NP_001119580.2:p.Ser620del