Canonical Allele Identifier: CA2515855891
Gene: NUP205 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.135645266_135645267del , CM000669.2:g.135645266_135645267del GRCh38
NC_000007.13:g.135330014_135330015del , CM000669.1:g.135330014_135330015del GRCh37
NC_000007.12:g.134980554_134980555del NCBI36
NG_051184.1:g.92353_92354del

Transcript Alleles

HGVS Amino-acid Change
ENST00000285968.11:c.5684-202_5684-201del MANE Select ENSP00000285968.6:n.5684-202_5684-201del
ENST00000285968.10:c.5684-202_5684-201del ENSP00000285968.6:n.5684-202_5684-201del
ENST00000461255.5:n.891-202_891-201del
ENST00000477620.5:c.1405+288_1405+289del
ENST00000490439.1:c.120+248_120+249del
ENST00000607647.5:n.3962-202_3962-201del
NM_015135.2:c.5684-202_5684-201del NP_055950.1:n.5684-202_5684-201del
XM_005250235.2:c.4610-202_4610-201del XP_005250292.1:n.4610-202_4610-201del
NM_001329434.1:c.4610-202_4610-201del NP_001316363.1:n.4610-202_4610-201del
NM_015135.3:c.5684-202_5684-201del MANE Select NP_055950.2:n.5684-202_5684-201del
NM_001329434.2:c.4610-202_4610-201del NP_001316363.2:n.4610-202_4610-201del