Canonical Allele Identifier: CA2224364811

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902415_56902416delinsTG , CM000678.2:g.56902415_56902416delinsTG	GRCh38
NC_000016.9:g.56936327_56936328delinsTG , CM000678.1:g.56936327_56936328delinsTG	GRCh37
NC_000016.8:g.55493828_55493829delinsTG	NCBI36
NG_009386.1:g.42209_42210delinsTG
NG_009386.2:g.42209_42210delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2763_2764delinsTG MANE Select	ENSP00000456149.2:p.Asn921=
ENST00000262502.5:c.2760_2761delinsTG	ENSP00000262502.5:p.Asn920=
ENST00000438926.6:c.2790_2791delinsTG	ENSP00000402152.2:p.Asn930=
ENST00000563236.5:c.2763_2764delinsTG	ENSP00000456149.1:p.Asn921=
ENST00000566786.5:c.2787_2788delinsTG	ENSP00000457552.1:p.Asn929=
ENST00000569002.1:n.194_195delinsTG
NM_000339.2:c.2790_2791delinsTG	NP_000330.2:p.Asn930=
NM_001126107.1:c.2787_2788delinsTG	NP_001119579.1:p.Asn929=
NM_001126108.1:c.2763_2764delinsTG	NP_001119580.1:p.Asn921=
XM_005256119.1:c.2760_2761delinsTG	XP_005256176.1:p.Asn920=
XM_005256119.2:c.2760_2761delinsTG	XP_005256176.1:p.Asn920=
NM_000339.3:c.2790_2791delinsTG	NP_000330.3:p.Asn930=
NM_001126107.2:c.2787_2788delinsTG	NP_001119579.2:p.Asn929=
NM_001126108.2:c.2763_2764delinsTG MANE Select	NP_001119580.2:p.Asn921=