Canonical Allele Identifier: CA2685060054

Gene: NUP205

Linked Data

• gnomAD v4: 7-135645048-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645048_135645049insC , CM000669.2:g.135645048_135645049insC	GRCh38
NC_000007.13:g.135329796_135329797insC , CM000669.1:g.135329796_135329797insC	GRCh37
NC_000007.12:g.134980336_134980337insC	NCBI36
NG_051184.1:g.92135_92136insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5683+30_5683+31insC MANE Select	ENSP00000285968.6:n.5683+30_5683+31insC
ENST00000285968.10:c.5683+30_5683+31insC	ENSP00000285968.6:n.5683+30_5683+31insC
ENST00000461255.5:n.890+30_890+31insC
ENST00000477620.5:c.1405+70_1405+71insC
ENST00000490439.1:c.120+30_120+31insC
ENST00000607647.5:n.3961+30_3961+31insC
NM_015135.2:c.5683+30_5683+31insC	NP_055950.1:n.5683+30_5683+31insC
XM_005250235.2:c.4609+30_4609+31insC	XP_005250292.1:n.4609+30_4609+31insC
NM_001329434.1:c.4609+30_4609+31insC	NP_001316363.1:n.4609+30_4609+31insC
NM_015135.3:c.5683+30_5683+31insC MANE Select	NP_055950.2:n.5683+30_5683+31insC
NM_001329434.2:c.4609+30_4609+31insC	NP_001316363.2:n.4609+30_4609+31insC