Canonical Allele Identifier: CA2633381448

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56904643-C-CCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904644_56904645insAGC , CM000678.2:g.56904644_56904645insAGC	GRCh38
NC_000016.9:g.56938556_56938557insAGC , CM000678.1:g.56938556_56938557insAGC	GRCh37
NC_000016.8:g.55496057_55496058insAGC	NCBI36
NG_009386.1:g.44438_44439insAGC
NG_009386.2:g.44438_44439insAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2924+182_2924+183insAGC MANE Select	ENSP00000456149.2:n.2924+182_2924+183insAGC
ENST00000262502.5:c.2921+182_2921+183insAGC	ENSP00000262502.5:n.2921+182_2921+183insAGC
ENST00000438926.6:c.2951+182_2951+183insAGC	ENSP00000402152.2:n.2951+182_2951+183insAGC
ENST00000563236.5:c.2924+182_2924+183insAGC	ENSP00000456149.1:n.2924+182_2924+183insAGC
ENST00000566786.5:c.2948+182_2948+183insAGC	ENSP00000457552.1:n.2948+182_2948+183insAGC
ENST00000569002.1:n.537_538insAGC
NM_000339.2:c.2951+182_2951+183insAGC	NP_000330.2:n.2951+182_2951+183insAGC
NM_001126107.1:c.2948+182_2948+183insAGC	NP_001119579.1:n.2948+182_2948+183insAGC
NM_001126108.1:c.2924+182_2924+183insAGC	NP_001119580.1:n.2924+182_2924+183insAGC
XM_005256119.1:c.2921+182_2921+183insAGC	XP_005256176.1:n.2921+182_2921+183insAGC
XM_005256119.2:c.2921+182_2921+183insAGC	XP_005256176.1:n.2921+182_2921+183insAGC
NM_000339.3:c.2951+182_2951+183insAGC	NP_000330.3:n.2951+182_2951+183insAGC
NM_001126107.2:c.2948+182_2948+183insAGC	NP_001119579.2:n.2948+182_2948+183insAGC
NM_001126108.2:c.2924+182_2924+183insAGC MANE Select	NP_001119580.2:n.2924+182_2924+183insAGC