Canonical Allele Identifier: CA2633373911

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56885268-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56885271del , CM000678.2:g.56885271del	GRCh38
NC_000016.9:g.56919183del , CM000678.1:g.56919183del	GRCh37
NC_000016.8:g.55476684del	NCBI36
NG_009386.1:g.25065del
NG_009386.2:g.25065del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.1832del MANE Select	ENSP00000456149.2:p.Asn611IlefsTer?
ENST00000262502.5:c.1829del	ENSP00000262502.5:p.Asn610IlefsTer?
ENST00000438926.6:c.1832del	ENSP00000402152.2:p.Asn611IlefsTer?
ENST00000563236.5:c.1832del	ENSP00000456149.1:p.Asn611IlefsTer?
ENST00000566786.5:c.1829del	ENSP00000457552.1:p.Asn610IlefsTer?
NM_000339.2:c.1832del	NP_000330.2:p.Asn611IlefsTer?
NM_001126107.1:c.1829del	NP_001119579.1:p.Asn610IlefsTer?
NM_001126108.1:c.1832del	NP_001119580.1:p.Asn611IlefsTer?
XM_005256119.1:c.1829del	XP_005256176.1:p.Asn610IlefsTer?
XM_005256119.2:c.1829del	XP_005256176.1:p.Asn610IlefsTer?
NM_000339.3:c.1832del	NP_000330.3:p.Asn611IlefsTer?
NM_001126107.2:c.1829del	NP_001119579.2:p.Asn610IlefsTer?
NM_001126108.2:c.1832del MANE Select	NP_001119580.2:p.Asn611IlefsTer?