Canonical Allele Identifier: CA2633380738

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56879498-GCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879499_56879501del , CM000678.2:g.56879499_56879501del	GRCh38
NC_000016.9:g.56913411_56913413del , CM000678.1:g.56913411_56913413del	GRCh37
NC_000016.8:g.55470912_55470914del	NCBI36
NG_009386.1:g.19293_19295del
NG_009386.2:g.19293_19295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1336-43_1336-41del MANE Select	ENSP00000456149.2:n.1336-43_1336-41del
ENST00000262502.5:c.1333-43_1333-41del	ENSP00000262502.5:n.1333-43_1333-41del
ENST00000438926.6:c.1336-43_1336-41del	ENSP00000402152.2:n.1336-43_1336-41del
ENST00000563236.5:c.1336-43_1336-41del	ENSP00000456149.1:n.1336-43_1336-41del
ENST00000566786.5:c.1333-43_1333-41del	ENSP00000457552.1:n.1333-43_1333-41del
NM_000339.2:c.1336-43_1336-41del	NP_000330.2:n.1336-43_1336-41del
NM_001126107.1:c.1333-43_1333-41del	NP_001119579.1:n.1333-43_1333-41del
NM_001126108.1:c.1336-43_1336-41del	NP_001119580.1:n.1336-43_1336-41del
XM_005256119.1:c.1333-43_1333-41del	XP_005256176.1:n.1333-43_1333-41del
XM_005256119.2:c.1333-43_1333-41del	XP_005256176.1:n.1333-43_1333-41del
NM_000339.3:c.1336-43_1336-41del	NP_000330.3:n.1336-43_1336-41del
NM_001126107.2:c.1333-43_1333-41del	NP_001119579.2:n.1333-43_1333-41del
NM_001126108.2:c.1336-43_1336-41del MANE Select	NP_001119580.2:n.1336-43_1336-41del