Canonical Allele Identifier: CA2527769537

Gene: NUP205

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645258_135645260del , CM000669.2:g.135645258_135645260del	GRCh38
NC_000007.13:g.135330006_135330008del , CM000669.1:g.135330006_135330008del	GRCh37
NC_000007.12:g.134980546_134980548del	NCBI36
NG_051184.1:g.92345_92347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5684-210_5684-208del MANE Select	ENSP00000285968.6:n.5684-210_5684-208del
ENST00000285968.10:c.5684-210_5684-208del	ENSP00000285968.6:n.5684-210_5684-208del
ENST00000461255.5:n.891-210_891-208del
ENST00000477620.5:c.1405+280_1405+282del
ENST00000490439.1:c.120+240_120+242del
ENST00000607647.5:n.3962-210_3962-208del
NM_015135.2:c.5684-210_5684-208del	NP_055950.1:n.5684-210_5684-208del
XM_005250235.2:c.4610-210_4610-208del	XP_005250292.1:n.4610-210_4610-208del
NM_001329434.1:c.4610-210_4610-208del	NP_001316363.1:n.4610-210_4610-208del
NM_015135.3:c.5684-210_5684-208del MANE Select	NP_055950.2:n.5684-210_5684-208del
NM_001329434.2:c.4610-210_4610-208del	NP_001316363.2:n.4610-210_4610-208del