Canonical Allele Identifier: CA2408185448

Gene: UPK3A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293303_45293310delinsCTCAGCCT , CM000684.2:g.45293303_45293310delinsCTCAGCCT	GRCh38
NC_000022.10:g.45689184_45689191delinsCTCAGCCT , CM000684.1:g.45689184_45689191delinsCTCAGCCT	GRCh37
NC_000022.9:g.44067848_44067855delinsCTCAGCCT	NCBI36
NG_016203.1:g.13317_13324delinsCTCAGCCT
NG_016203.2:g.13317_13324delinsCTCAGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.694_701delinsCTCAGCCT MANE Select	ENSP00000216211.4:p.Leu232=
ENST00000216211.8:c.694_701delinsCTCAGCCT	ENSP00000216211.4:p.Leu232=
ENST00000396082.2:c.331_338delinsCTCAGCCT	ENSP00000379391.2:p.Leu111=
NM_001167574.1:c.331_338delinsCTCAGCCT	NP_001161046.1:p.Leu111=
NM_006953.3:c.694_701delinsCTCAGCCT	NP_008884.1:p.Leu232=
XM_011530364.1:c.700_707delinsCTCAGCCT	XP_011528666.1:p.Leu234=
XM_011530365.1:c.337_344delinsCTCAGCCT	XP_011528667.1:p.Leu113=
NM_006953.4:c.694_701delinsCTCAGCCT MANE Select	NP_008884.1:p.Leu232=
NM_001167574.2:c.331_338delinsCTCAGCCT	NP_001161046.1:p.Leu111=