Canonical Allele Identifier: CA2408185434

Gene: UPK3A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293289_45293290delinsCT , CM000684.2:g.45293289_45293290delinsCT	GRCh38
NC_000022.10:g.45689170_45689171delinsCT , CM000684.1:g.45689170_45689171delinsCT	GRCh37
NC_000022.9:g.44067834_44067835delinsCT	NCBI36
NG_016203.1:g.13303_13304delinsCT
NG_016203.2:g.13303_13304delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.680_681delinsCT MANE Select	ENSP00000216211.4:p.Ala227=
ENST00000216211.8:c.680_681delinsCT	ENSP00000216211.4:p.Ala227=
ENST00000396082.2:c.317_318delinsCT	ENSP00000379391.2:p.Ala106=
NM_001167574.1:c.317_318delinsCT	NP_001161046.1:p.Ala106=
NM_006953.3:c.680_681delinsCT	NP_008884.1:p.Ala227=
XM_011530364.1:c.686_687delinsCT	XP_011528666.1:p.Ala229=
XM_011530365.1:c.323_324delinsCT	XP_011528667.1:p.Ala108=
NM_006953.4:c.680_681delinsCT MANE Select	NP_008884.1:p.Ala227=
NM_001167574.2:c.317_318delinsCT	NP_001161046.1:p.Ala106=