Canonical Allele Identifier: CA2408185432

Gene: UPK3A

Linked Data

• dbSNP Id: rs2084174216

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293279_45293280insCTCA , CM000684.2:g.45293279_45293280insCTCA	GRCh38
NC_000022.10:g.45689160_45689161insCTCA , CM000684.1:g.45689160_45689161insCTCA	GRCh37
NC_000022.9:g.44067824_44067825insCTCA	NCBI36
NG_016203.1:g.13293_13294insCTCA
NG_016203.2:g.13293_13294insCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.670_671insCTCA MANE Select	ENSP00000216211.4:p.Val224AlafsTer19
ENST00000216211.8:c.670_671insCTCA	ENSP00000216211.4:p.Val224AlafsTer19
ENST00000396082.2:c.307_308insCTCA	ENSP00000379391.2:p.Val103AlafsTer19
NM_001167574.1:c.307_308insCTCA	NP_001161046.1:p.Val103AlafsTer19
NM_006953.3:c.670_671insCTCA	NP_008884.1:p.Val224AlafsTer19
XM_011530364.1:c.676_677insCTCA	XP_011528666.1:p.Val226AlafsTer19
XM_011530365.1:c.313_314insCTCA	XP_011528667.1:p.Val105AlafsTer19
NM_006953.4:c.670_671insCTCA MANE Select	NP_008884.1:p.Val224AlafsTer19
NM_001167574.2:c.307_308insCTCA	NP_001161046.1:p.Val103AlafsTer19