Canonical Allele Identifier: CA2549755003

Gene: UPK3A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293505_45293506del , CM000684.2:g.45293505_45293506del	GRCh38
NC_000022.10:g.45689386_45689387del , CM000684.1:g.45689386_45689387del	GRCh37
NC_000022.9:g.44068050_44068051del	NCBI36
NG_016203.1:g.13519_13520del
NG_016203.2:g.13519_13520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.704+192_704+193del MANE Select	ENSP00000216211.4:n.704+192_704+193del
ENST00000216211.8:c.704+192_704+193del	ENSP00000216211.4:n.704+192_704+193del
ENST00000396082.2:c.341+192_341+193del	ENSP00000379391.2:n.341+192_341+193del
NM_001167574.1:c.341+192_341+193del	NP_001161046.1:n.341+192_341+193del
NM_006953.3:c.704+192_704+193del	NP_008884.1:n.704+192_704+193del
XM_011530364.1:c.710+192_710+193del	XP_011528666.1:n.710+192_710+193del
XM_011530365.1:c.347+192_347+193del	XP_011528667.1:n.347+192_347+193del
NM_006953.4:c.704+192_704+193del MANE Select	NP_008884.1:n.704+192_704+193del
NM_001167574.2:c.341+192_341+193del	NP_001161046.1:n.341+192_341+193del