Canonical Allele Identifier: CA2224365797

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904543_56904544delinsAC , CM000678.2:g.56904543_56904544delinsAC	GRCh38
NC_000016.9:g.56938455_56938456delinsAC , CM000678.1:g.56938455_56938456delinsAC	GRCh37
NC_000016.8:g.55495956_55495957delinsAC	NCBI36
NG_009386.1:g.44337_44338delinsAC
NG_009386.2:g.44337_44338delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2924+81_2924+82delinsAC MANE Select	ENSP00000456149.2:n.2924+81_2924+82delinsAC
ENST00000262502.5:c.2921+81_2921+82delinsAC	ENSP00000262502.5:n.2921+81_2921+82delinsAC
ENST00000438926.6:c.2951+81_2951+82delinsAC	ENSP00000402152.2:n.2951+81_2951+82delinsAC
ENST00000563236.5:c.2924+81_2924+82delinsAC	ENSP00000456149.1:n.2924+81_2924+82delinsAC
ENST00000566786.5:c.2948+81_2948+82delinsAC	ENSP00000457552.1:n.2948+81_2948+82delinsAC
ENST00000569002.1:n.436_437delinsAC
NM_000339.2:c.2951+81_2951+82delinsAC	NP_000330.2:n.2951+81_2951+82delinsAC
NM_001126107.1:c.2948+81_2948+82delinsAC	NP_001119579.1:n.2948+81_2948+82delinsAC
NM_001126108.1:c.2924+81_2924+82delinsAC	NP_001119580.1:n.2924+81_2924+82delinsAC
XM_005256119.1:c.2921+81_2921+82delinsAC	XP_005256176.1:n.2921+81_2921+82delinsAC
XM_005256119.2:c.2921+81_2921+82delinsAC	XP_005256176.1:n.2921+81_2921+82delinsAC
NM_000339.3:c.2951+81_2951+82delinsAC	NP_000330.3:n.2951+81_2951+82delinsAC
NM_001126107.2:c.2948+81_2948+82delinsAC	NP_001119579.2:n.2948+81_2948+82delinsAC
NM_001126108.2:c.2924+81_2924+82delinsAC MANE Select	NP_001119580.2:n.2924+81_2924+82delinsAC