Canonical Allele Identifier: CA2539337802

Gene: UPK3A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293287_45293288del , CM000684.2:g.45293287_45293288del	GRCh38
NC_000022.10:g.45689168_45689169del , CM000684.1:g.45689168_45689169del	GRCh37
NC_000022.9:g.44067832_44067833del	NCBI36
NG_016203.1:g.13301_13302del
NG_016203.2:g.13301_13302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.678_679del MANE Select	ENSP00000216211.4:p.Ala227TrpfsTer14
ENST00000216211.8:c.678_679del	ENSP00000216211.4:p.Ala227TrpfsTer14
ENST00000396082.2:c.315_316del	ENSP00000379391.2:p.Ala106TrpfsTer14
NM_001167574.1:c.315_316del	NP_001161046.1:p.Ala106TrpfsTer14
NM_006953.3:c.678_679del	NP_008884.1:p.Ala227TrpfsTer14
XM_011530364.1:c.684_685del	XP_011528666.1:p.Ala229TrpfsTer14
XM_011530365.1:c.321_322del	XP_011528667.1:p.Ala108TrpfsTer14
NM_006953.4:c.678_679del MANE Select	NP_008884.1:p.Ala227TrpfsTer14
NM_001167574.2:c.315_316del	NP_001161046.1:p.Ala106TrpfsTer14