Canonical Allele Identifier: CA733938430

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1319213248
• gnomAD v3: 1-244863795-TTGC-T
• gnomAD v4: 1-244863795-TTGC-T
• MyVariant Identifiers: chr1:g.245027098_245027100del (hg19) ; chr1:g.244863796_244863798del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863802_244863804del , CM000663.2:g.244863802_244863804del	GRCh38
NC_000001.10:g.245027104_245027106del , CM000663.1:g.245027104_245027106del	GRCh37
NC_000001.9:g.243093727_243093729del	NCBI36
NG_042184.1:g.5728_5730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.188_190del
ENST00000283179.14:c.510_512del	ENSP00000283179.10:p.Gln171del
ENST00000444376.7:c.510_512del	ENSP00000393151.2:p.Gln171del
ENST00000476241.2:n.695_697del
ENST00000638475.1:c.294_296del	ENSP00000491305.1:p.Gln99del
ENST00000638952.1:n.741_743del
ENST00000640218.2:c.510_512del MANE Select	ENSP00000491215.1:p.Gln171del
ENST00000640306.1:c.510_512del	ENSP00000491685.1:p.Gln171del
ENST00000640440.1:c.210_212del	ENSP00000491263.1:p.Gln71del
ENST00000649899.1:n.734_736del
ENST00000283179.13:c.510_512del	ENSP00000283179.9:p.Gln171del
ENST00000444376.6:c.510_512del	ENSP00000393151.2:p.Gln171del
ENST00000476241.1:n.694_696del
NM_004501.3:c.510_512del	NP_004492.2:p.Gln171del
NM_031844.2:c.510_512del	NP_114032.2:p.Gln171del
NM_031844.3:c.510_512del MANE Select	NP_114032.2:p.Gln171del