Canonical Allele Identifier: CA2633374664

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56894739-CCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894740_56894743del , CM000678.2:g.56894740_56894743del	GRCh38
NC_000016.9:g.56928652_56928655del , CM000678.1:g.56928652_56928655del	GRCh37
NC_000016.8:g.55486153_55486156del	NCBI36
NG_009386.1:g.34534_34537del
NG_009386.2:g.34534_34537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2633+98_2633+101del MANE Select	ENSP00000456149.2:n.2633+98_2633+101del
ENST00000262502.5:c.2630+98_2630+101del	ENSP00000262502.5:n.2630+98_2630+101del
ENST00000438926.6:c.2660+98_2660+101del	ENSP00000402152.2:n.2660+98_2660+101del
ENST00000563236.5:c.2633+98_2633+101del	ENSP00000456149.1:n.2633+98_2633+101del
ENST00000566786.5:c.2657+98_2657+101del	ENSP00000457552.1:n.2657+98_2657+101del
NM_000339.2:c.2660+98_2660+101del	NP_000330.2:n.2660+98_2660+101del
NM_001126107.1:c.2657+98_2657+101del	NP_001119579.1:n.2657+98_2657+101del
NM_001126108.1:c.2633+98_2633+101del	NP_001119580.1:n.2633+98_2633+101del
XM_005256119.1:c.2630+98_2630+101del	XP_005256176.1:n.2630+98_2630+101del
XM_005256119.2:c.2630+98_2630+101del	XP_005256176.1:n.2630+98_2630+101del
NM_000339.3:c.2660+98_2660+101del	NP_000330.3:n.2660+98_2660+101del
NM_001126107.2:c.2657+98_2657+101del	NP_001119579.2:n.2657+98_2657+101del
NM_001126108.2:c.2633+98_2633+101del MANE Select	NP_001119580.2:n.2633+98_2633+101del