Canonical Allele Identifier: CA8069577

Gene: SLC12A3

Linked Data

• dbSNP Id: rs778213007
• ExAC: 16:56917984 TACA / T
• gnomAD v2: 16-56917984-TACA-T
• gnomAD v3: 16-56884072-TACA-T
• gnomAD v4: 16-56884072-TACA-T
• MyVariant Identifiers: chr16:g.56917985_56917987del (hg19) ; chr16:g.56884073_56884075del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884077_56884079del , CM000678.2:g.56884077_56884079del	GRCh38
NC_000016.9:g.56917989_56917991del , CM000678.1:g.56917989_56917991del	GRCh37
NC_000016.8:g.55475490_55475492del	NCBI36
NG_009386.1:g.23871_23873del
NG_009386.2:g.23871_23873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1698_1700del MANE Select	ENSP00000456149.2:p.Asn566del
ENST00000262502.5:c.1695_1697del	ENSP00000262502.5:p.Asn565del
ENST00000438926.6:c.1698_1700del	ENSP00000402152.2:p.Asn566del
ENST00000563236.5:c.1698_1700del	ENSP00000456149.1:p.Asn566del
ENST00000566786.5:c.1695_1697del	ENSP00000457552.1:p.Asn565del
NM_000339.2:c.1698_1700del	NP_000330.2:p.Asn566del
NM_001126107.1:c.1695_1697del	NP_001119579.1:p.Asn565del
NM_001126108.1:c.1698_1700del	NP_001119580.1:p.Asn566del
XM_005256119.1:c.1695_1697del	XP_005256176.1:p.Asn565del
XM_005256119.2:c.1695_1697del	XP_005256176.1:p.Asn565del
NM_000339.3:c.1698_1700del	NP_000330.3:p.Asn566del
NM_001126107.2:c.1695_1697del	NP_001119579.2:p.Asn565del
NM_001126108.2:c.1698_1700del MANE Select	NP_001119580.2:p.Asn566del