Canonical Allele Identifier: CA2695196545

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884063_56884075del , CM000678.2:g.56884063_56884075del	GRCh38
NC_000016.9:g.56917975_56917987del , CM000678.1:g.56917975_56917987del	GRCh37
NC_000016.8:g.55475476_55475488del	NCBI36
NG_009386.1:g.23857_23869del
NG_009386.2:g.23857_23869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1684_1696del MANE Select	ENSP00000456149.2:p.Phe562ThrfsTer?
ENST00000262502.5:c.1681_1693del	ENSP00000262502.5:p.Phe561ThrfsTer?
ENST00000438926.6:c.1684_1696del	ENSP00000402152.2:p.Phe562ThrfsTer?
ENST00000563236.5:c.1684_1696del	ENSP00000456149.1:p.Phe562ThrfsTer?
ENST00000566786.5:c.1681_1693del	ENSP00000457552.1:p.Phe561ThrfsTer?
NM_000339.2:c.1684_1696del	NP_000330.2:p.Phe562ThrfsTer?
NM_001126107.1:c.1681_1693del	NP_001119579.1:p.Phe561ThrfsTer?
NM_001126108.1:c.1684_1696del	NP_001119580.1:p.Phe562ThrfsTer?
XM_005256119.1:c.1681_1693del	XP_005256176.1:p.Phe561ThrfsTer?
XM_005256119.2:c.1681_1693del	XP_005256176.1:p.Phe561ThrfsTer?
NM_000339.3:c.1684_1696del	NP_000330.3:p.Phe562ThrfsTer?
NM_001126107.2:c.1681_1693del	NP_001119579.2:p.Phe561ThrfsTer?
NM_001126108.2:c.1684_1696del MANE Select	NP_001119580.2:p.Phe562ThrfsTer?