Canonical Allele Identifier: CA2580611582

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 1471348
• ClinVar RCV Id: RCV002569319
• dbSNP Id: rs2102990578
• gnomAD v4: 1-244863767-TGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863771_244863773del , CM000663.2:g.244863771_244863773del	GRCh38
NC_000001.10:g.245027073_245027075del , CM000663.1:g.245027073_245027075del	GRCh37
NC_000001.9:g.243093696_243093698del	NCBI36
NG_042184.1:g.5756_5758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.216_218del
ENST00000283179.14:c.538_540del	ENSP00000283179.10:p.Ala180del
ENST00000444376.7:c.538_540del	ENSP00000393151.2:p.Ala180del
ENST00000476241.2:n.723_725del
ENST00000638475.1:c.322_324del	ENSP00000491305.1:p.Ala108del
ENST00000638952.1:n.769_771del
ENST00000640218.2:c.538_540del MANE Select	ENSP00000491215.1:p.Ala180del
ENST00000640306.1:c.538_540del	ENSP00000491685.1:p.Ala180del
ENST00000640440.1:c.238_240del	ENSP00000491263.1:p.Ala80del
ENST00000649899.1:n.762_764del
ENST00000283179.13:c.538_540del	ENSP00000283179.9:p.Ala180del
ENST00000444376.6:c.538_540del	ENSP00000393151.2:p.Ala180del
ENST00000476241.1:n.722_724del
NM_004501.3:c.538_540del	NP_004492.2:p.Ala180del
NM_031844.2:c.538_540del	NP_114032.2:p.Ala180del
NM_031844.3:c.538_540del MANE Select	NP_114032.2:p.Ala180del