Canonical Allele Identifier: CA2577748626

Gene: UPK3A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293331_45293342del , CM000684.2:g.45293331_45293342del	GRCh38
NC_000022.10:g.45689212_45689223del , CM000684.1:g.45689212_45689223del	GRCh37
NC_000022.9:g.44067876_44067887del	NCBI36
NG_016203.1:g.13345_13356del
NG_016203.2:g.13345_13356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.704+18_704+29del MANE Select	ENSP00000216211.4:n.704+18_704+29del
ENST00000216211.8:c.704+18_704+29del	ENSP00000216211.4:n.704+18_704+29del
ENST00000396082.2:c.341+18_341+29del	ENSP00000379391.2:n.341+18_341+29del
NM_001167574.1:c.341+18_341+29del	NP_001161046.1:n.341+18_341+29del
NM_006953.3:c.704+18_704+29del	NP_008884.1:n.704+18_704+29del
XM_011530364.1:c.710+18_710+29del	XP_011528666.1:n.710+18_710+29del
XM_011530365.1:c.347+18_347+29del	XP_011528667.1:n.347+18_347+29del
NM_006953.4:c.704+18_704+29del MANE Select	NP_008884.1:n.704+18_704+29del
NM_001167574.2:c.341+18_341+29del	NP_001161046.1:n.341+18_341+29del