Canonical Allele Identifier: CA2633371009

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56870124-TCTGGGCCCAGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870127_56870138del , CM000678.2:g.56870127_56870138del	GRCh38
NC_000016.9:g.56904039_56904050del , CM000678.1:g.56904039_56904050del	GRCh37
NC_000016.8:g.55461540_55461551del	NCBI36
NG_009386.1:g.9921_9932del
NG_009386.2:g.9921_9932del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.633_644del MANE Select	ENSP00000456149.2:p.Gly212_Leu215del
ENST00000262502.5:c.630_641del	ENSP00000262502.5:p.Gly211_Leu214del
ENST00000438926.6:c.633_644del	ENSP00000402152.2:p.Gly212_Leu215del
ENST00000563236.5:c.633_644del	ENSP00000456149.1:p.Gly212_Leu215del
ENST00000566786.5:c.630_641del	ENSP00000457552.1:p.Gly211_Leu214del
NM_000339.2:c.633_644del	NP_000330.2:p.Gly212_Leu215del
NM_001126107.1:c.630_641del	NP_001119579.1:p.Gly211_Leu214del
NM_001126108.1:c.633_644del	NP_001119580.1:p.Gly212_Leu215del
XM_005256119.1:c.630_641del	XP_005256176.1:p.Gly211_Leu214del
XM_005256119.2:c.630_641del	XP_005256176.1:p.Gly211_Leu214del
NM_000339.3:c.633_644del	NP_000330.3:p.Gly212_Leu215del
NM_001126107.2:c.630_641del	NP_001119579.2:p.Gly211_Leu214del
NM_001126108.2:c.633_644del MANE Select	NP_001119580.2:p.Gly212_Leu215del