Canonical Allele Identifier: CA2633380547

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56904401-C-CGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904404_56904407dup , CM000678.2:g.56904404_56904407dup	GRCh38
NC_000016.9:g.56938316_56938319dup , CM000678.1:g.56938316_56938319dup	GRCh37
NC_000016.8:g.55495817_55495820dup	NCBI36
NG_009386.1:g.44198_44201dup
NG_009386.2:g.44198_44201dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2866_2869dup MANE Select	ENSP00000456149.2:p.Val957AlafsTer6
ENST00000262502.5:c.2863_2866dup	ENSP00000262502.5:p.Val956AlafsTer6
ENST00000438926.6:c.2893_2896dup	ENSP00000402152.2:p.Val966AlafsTer6
ENST00000563236.5:c.2866_2869dup	ENSP00000456149.1:p.Val957AlafsTer6
ENST00000566786.5:c.2890_2893dup	ENSP00000457552.1:p.Val965AlafsTer6
ENST00000569002.1:n.297_300dup
NM_000339.2:c.2893_2896dup	NP_000330.2:p.Val966AlafsTer6
NM_001126107.1:c.2890_2893dup	NP_001119579.1:p.Val965AlafsTer6
NM_001126108.1:c.2866_2869dup	NP_001119580.1:p.Val957AlafsTer6
XM_005256119.1:c.2863_2866dup	XP_005256176.1:p.Val956AlafsTer6
XM_005256119.2:c.2863_2866dup	XP_005256176.1:p.Val956AlafsTer6
NM_000339.3:c.2893_2896dup	NP_000330.3:p.Val966AlafsTer6
NM_001126107.2:c.2890_2893dup	NP_001119579.2:p.Val965AlafsTer6
NM_001126108.2:c.2866_2869dup MANE Select	NP_001119580.2:p.Val957AlafsTer6