Canonical Allele Identifier: CA2685060298

Gene: NUP205

Linked Data

• gnomAD v4: 7-135645381-AGTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645385_135645388del , CM000669.2:g.135645385_135645388del	GRCh38
NC_000007.13:g.135330133_135330136del , CM000669.1:g.135330133_135330136del	GRCh37
NC_000007.12:g.134980673_134980676del	NCBI36
NG_051184.1:g.92472_92475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5684-83_5684-80del MANE Select	ENSP00000285968.6:n.5684-83_5684-80del
ENST00000285968.10:c.5684-83_5684-80del	ENSP00000285968.6:n.5684-83_5684-80del
ENST00000461255.5:n.891-83_891-80del
ENST00000477620.5:c.1405+407_1405+410del
ENST00000490439.1:c.120+367_120+370del
ENST00000607647.5:n.3962-83_3962-80del
NM_015135.2:c.5684-83_5684-80del	NP_055950.1:n.5684-83_5684-80del
XM_005250235.2:c.4610-83_4610-80del	XP_005250292.1:n.4610-83_4610-80del
NM_001329434.1:c.4610-83_4610-80del	NP_001316363.1:n.4610-83_4610-80del
NM_015135.3:c.5684-83_5684-80del MANE Select	NP_055950.2:n.5684-83_5684-80del
NM_001329434.2:c.4610-83_4610-80del	NP_001316363.2:n.4610-83_4610-80del