Canonical Allele Identifier: CA2684877407

Gene: UBE2H

Linked Data

• gnomAD v4: 7-129839104-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129839109del , CM000669.2:g.129839109del	GRCh38
NC_000007.13:g.129478949del , CM000669.1:g.129478949del	GRCh37
NC_000007.12:g.129266185del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355621.8:c.427+102del MANE Select	ENSP00000347836.3:n.427+102del
ENST00000649897.1:c.217+102del	ENSP00000497987.1:n.217+102del
ENST00000355621.7:c.427+102del	ENSP00000347836.3:n.427+102del
ENST00000473814.6:c.334+102del	ENSP00000419097.2:n.334+102del
ENST00000483368.1:n.535+102del
ENST00000496698.5:c.328+102del	ENSP00000417681.1:n.328+102del
NM_001202498.1:c.217+102del	NP_001189427.1:n.217+102del
NM_003344.3:c.427+102del	NP_003335.1:n.427+102del
NM_182697.2:c.334+102del	NP_874356.1:n.334+102del
XM_011516547.1:c.616+102del	XP_011514849.1:n.616+102del
NM_001202498.2:c.217+102del	NP_001189427.1:n.217+102del
NM_003344.4:c.427+102del MANE Select	NP_003335.1:n.427+102del
NM_182697.3:c.334+102del	NP_874356.1:n.334+102del