Canonical Allele Identifier: CA2685060052

Gene: NUP205

Linked Data

• gnomAD v4: 7-135645045-A-AAATC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645046_135645047insATCA , CM000669.2:g.135645046_135645047insATCA	GRCh38
NC_000007.13:g.135329794_135329795insATCA , CM000669.1:g.135329794_135329795insATCA	GRCh37
NC_000007.12:g.134980334_134980335insATCA	NCBI36
NG_051184.1:g.92133_92134insATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5683+28_5683+29insATCA MANE Select	ENSP00000285968.6:n.5683+28_5683+29insATCA
ENST00000285968.10:c.5683+28_5683+29insATCA	ENSP00000285968.6:n.5683+28_5683+29insATCA
ENST00000461255.5:n.890+28_890+29insATCA
ENST00000477620.5:c.1405+68_1405+69insATCA
ENST00000490439.1:c.120+28_120+29insATCA
ENST00000607647.5:n.3961+28_3961+29insATCA
NM_015135.2:c.5683+28_5683+29insATCA	NP_055950.1:n.5683+28_5683+29insATCA
XM_005250235.2:c.4609+28_4609+29insATCA	XP_005250292.1:n.4609+28_4609+29insATCA
NM_001329434.1:c.4609+28_4609+29insATCA	NP_001316363.1:n.4609+28_4609+29insATCA
NM_015135.3:c.5683+28_5683+29insATCA MANE Select	NP_055950.2:n.5683+28_5683+29insATCA
NM_001329434.2:c.4609+28_4609+29insATCA	NP_001316363.2:n.4609+28_4609+29insATCA