Canonical Allele Identifier: CA2580611584

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 2503488
• ClinVar RCV Id: RCV003230306

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864064del , CM000663.2:g.244864064del	GRCh38
NC_000001.10:g.245027366del , CM000663.1:g.245027366del	GRCh37
NC_000001.9:g.243093989del	NCBI36
NG_042184.1:g.5463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.245del	ENSP00000283179.10:p.Gly82AlafsTer25
ENST00000444376.7:c.245del	ENSP00000393151.2:p.Gly82AlafsTer25
ENST00000476241.2:n.430del
ENST00000638475.1:c.29del	ENSP00000491305.1:p.Gly10AlafsTer25
ENST00000638952.1:n.476del
ENST00000640218.2:c.245del MANE Select	ENSP00000491215.1:p.Gly82AlafsTer25
ENST00000640306.1:c.245del	ENSP00000491685.1:p.Gly82AlafsTer25
ENST00000649899.1:n.469del
ENST00000283179.13:c.245del	ENSP00000283179.9:p.Gly82AlafsTer25
ENST00000444376.6:c.245del	ENSP00000393151.2:p.Gly82AlafsTer25
ENST00000476241.1:n.429del
NM_004501.3:c.245del	NP_004492.2:p.Gly82AlafsTer25
NM_031844.2:c.245del	NP_114032.2:p.Gly82AlafsTer25
NM_031844.3:c.245del MANE Select	NP_114032.2:p.Gly82AlafsTer25