Canonical Allele Identifier: CA2408185456

Gene: UPK3A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293317_45293318delinsAG , CM000684.2:g.45293317_45293318delinsAG	GRCh38
NC_000022.10:g.45689198_45689199delinsAG , CM000684.1:g.45689198_45689199delinsAG	GRCh37
NC_000022.9:g.44067862_44067863delinsAG	NCBI36
NG_016203.1:g.13331_13332delinsAG
NG_016203.2:g.13331_13332delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.704+4_704+5delinsAG MANE Select	ENSP00000216211.4:n.704+4_704+5delinsAG
ENST00000216211.8:c.704+4_704+5delinsAG	ENSP00000216211.4:n.704+4_704+5delinsAG
ENST00000396082.2:c.341+4_341+5delinsAG	ENSP00000379391.2:n.341+4_341+5delinsAG
NM_001167574.1:c.341+4_341+5delinsAG	NP_001161046.1:n.341+4_341+5delinsAG
NM_006953.3:c.704+4_704+5delinsAG	NP_008884.1:n.704+4_704+5delinsAG
XM_011530364.1:c.710+4_710+5delinsAG	XP_011528666.1:n.710+4_710+5delinsAG
XM_011530365.1:c.347+4_347+5delinsAG	XP_011528667.1:n.347+4_347+5delinsAG
NM_006953.4:c.704+4_704+5delinsAG MANE Select	NP_008884.1:n.704+4_704+5delinsAG
NM_001167574.2:c.341+4_341+5delinsAG	NP_001161046.1:n.341+4_341+5delinsAG