Canonical Allele Identifier: CA2651343513

Gene: HNRNPU

Linked Data

• gnomAD v4: 1-244863928-G-GCGGCCTCCTCCTCCTCCATCGGGCCCGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863934_244863963dup , CM000663.2:g.244863934_244863963dup	GRCh38
NC_000001.10:g.245027236_245027265dup , CM000663.1:g.245027236_245027265dup	GRCh37
NC_000001.9:g.243093859_243093888dup	NCBI36
NG_042184.1:g.5568_5597dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000704074.1:c.28_57dup
ENST00000283179.14:c.350_379dup	ENSP00000283179.10:p.Ala126_Ala127insAspS...
ENST00000444376.7:c.350_379dup	ENSP00000393151.2:p.Ala126_Ala127insAspSe...
ENST00000476241.2:n.535_564dup
ENST00000638475.1:c.134_163dup	ENSP00000491305.1:p.Ala54_Ala55insAspSerG...
ENST00000638952.1:n.581_610dup
ENST00000640218.2:c.350_379dup MANE Select	ENSP00000491215.1:p.Ala126_Ala127insAspSe...
ENST00000640306.1:c.350_379dup	ENSP00000491685.1:p.Ala126_Ala127insAspSe...
ENST00000640440.1:c.50_79dup	ENSP00000491263.1:p.Ala26_Ala27insAspSerG...
ENST00000649899.1:n.574_603dup
ENST00000283179.13:c.350_379dup	ENSP00000283179.9:p.Ala126_Ala127insAspSe...
ENST00000444376.6:c.350_379dup	ENSP00000393151.2:p.Ala126_Ala127insAspSe...
ENST00000476241.1:n.534_563dup
NM_004501.3:c.350_379dup	NP_004492.2:p.Ala126_Ala127insAspSerGlyPr...
NM_031844.2:c.350_379dup	NP_114032.2:p.Ala126_Ala127insAspSerGlyPr...
NM_031844.3:c.350_379dup MANE Select	NP_114032.2:p.Ala126_Ala127insAspSerGlyPr...