Canonical Allele Identifier: CA2633374480

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56894600-T-TCGTAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894603_56894608dup , CM000678.2:g.56894603_56894608dup	GRCh38
NC_000016.9:g.56928515_56928520dup , CM000678.1:g.56928515_56928520dup	GRCh37
NC_000016.8:g.55486016_55486021dup	NCBI36
NG_009386.1:g.34397_34402dup
NG_009386.2:g.34397_34402dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2594_2599dup MANE Select	ENSP00000456149.2:p.Gly866_Gly867insValGly
ENST00000262502.5:c.2591_2596dup	ENSP00000262502.5:p.Gly865_Gly866insValGly
ENST00000438926.6:c.2621_2626dup	ENSP00000402152.2:p.Gly875_Gly876insValGly
ENST00000563236.5:c.2594_2599dup	ENSP00000456149.1:p.Gly866_Gly867insValGly
ENST00000566786.5:c.2618_2623dup	ENSP00000457552.1:p.Gly874_Gly875insValGly
NM_000339.2:c.2621_2626dup	NP_000330.2:p.Gly875_Gly876insValGly
NM_001126107.1:c.2618_2623dup	NP_001119579.1:p.Gly874_Gly875insValGly
NM_001126108.1:c.2594_2599dup	NP_001119580.1:p.Gly866_Gly867insValGly
XM_005256119.1:c.2591_2596dup	XP_005256176.1:p.Gly865_Gly866insValGly
XM_005256119.2:c.2591_2596dup	XP_005256176.1:p.Gly865_Gly866insValGly
NM_000339.3:c.2621_2626dup	NP_000330.3:p.Gly875_Gly876insValGly
NM_001126107.2:c.2618_2623dup	NP_001119579.2:p.Gly874_Gly875insValGly
NM_001126108.2:c.2594_2599dup MANE Select	NP_001119580.2:p.Gly866_Gly867insValGly