Canonical Allele Identifier: CA2633381647

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56904719-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904724del , CM000678.2:g.56904724del	GRCh38
NC_000016.9:g.56938636del , CM000678.1:g.56938636del	GRCh37
NC_000016.8:g.55496137del	NCBI36
NG_009386.1:g.44518del
NG_009386.2:g.44518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2924+262del MANE Select	ENSP00000456149.2:n.2924+262del
ENST00000262502.5:c.2921+262del	ENSP00000262502.5:n.2921+262del
ENST00000438926.6:c.2951+262del	ENSP00000402152.2:n.2951+262del
ENST00000563236.5:c.2924+262del	ENSP00000456149.1:n.2924+262del
ENST00000566786.5:c.2948+262del	ENSP00000457552.1:n.2948+262del
ENST00000569002.1:n.617del
NM_000339.2:c.2951+262del	NP_000330.2:n.2951+262del
NM_001126107.1:c.2948+262del	NP_001119579.1:n.2948+262del
NM_001126108.1:c.2924+262del	NP_001119580.1:n.2924+262del
XM_005256119.1:c.2921+262del	XP_005256176.1:n.2921+262del
XM_005256119.2:c.2921+262del	XP_005256176.1:n.2921+262del
NM_000339.3:c.2951+262del	NP_000330.3:n.2951+262del
NM_001126107.2:c.2948+262del	NP_001119579.2:n.2948+262del
NM_001126108.2:c.2924+262del MANE Select	NP_001119580.2:n.2924+262del