Canonical Allele Identifier: CA2224365882

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904711_56904712delinsTG , CM000678.2:g.56904711_56904712delinsTG	GRCh38
NC_000016.9:g.56938623_56938624delinsTG , CM000678.1:g.56938623_56938624delinsTG	GRCh37
NC_000016.8:g.55496124_55496125delinsTG	NCBI36
NG_009386.1:g.44505_44506delinsTG
NG_009386.2:g.44505_44506delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2924+249_2924+250delinsTG MANE Select	ENSP00000456149.2:n.2924+249_2924+250delinsTG
ENST00000262502.5:c.2921+249_2921+250delinsTG	ENSP00000262502.5:n.2921+249_2921+250delinsTG
ENST00000438926.6:c.2951+249_2951+250delinsTG	ENSP00000402152.2:n.2951+249_2951+250delinsTG
ENST00000563236.5:c.2924+249_2924+250delinsTG	ENSP00000456149.1:n.2924+249_2924+250delinsTG
ENST00000566786.5:c.2948+249_2948+250delinsTG	ENSP00000457552.1:n.2948+249_2948+250delinsTG
ENST00000569002.1:n.604_605delinsTG
NM_000339.2:c.2951+249_2951+250delinsTG	NP_000330.2:n.2951+249_2951+250delinsTG
NM_001126107.1:c.2948+249_2948+250delinsTG	NP_001119579.1:n.2948+249_2948+250delinsTG
NM_001126108.1:c.2924+249_2924+250delinsTG	NP_001119580.1:n.2924+249_2924+250delinsTG
XM_005256119.1:c.2921+249_2921+250delinsTG	XP_005256176.1:n.2921+249_2921+250delinsTG
XM_005256119.2:c.2921+249_2921+250delinsTG	XP_005256176.1:n.2921+249_2921+250delinsTG
NM_000339.3:c.2951+249_2951+250delinsTG	NP_000330.3:n.2951+249_2951+250delinsTG
NM_001126107.2:c.2948+249_2948+250delinsTG	NP_001119579.2:n.2948+249_2948+250delinsTG
NM_001126108.2:c.2924+249_2924+250delinsTG MANE Select	NP_001119580.2:n.2924+249_2924+250delinsTG