Canonical Allele Identifier: CA2579030794

Gene: NUP205

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645075_135645076del , CM000669.2:g.135645075_135645076del	GRCh38
NC_000007.13:g.135329823_135329824del , CM000669.1:g.135329823_135329824del	GRCh37
NC_000007.12:g.134980363_134980364del	NCBI36
NG_051184.1:g.92162_92163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5683+57_5683+58del MANE Select	ENSP00000285968.6:n.5683+57_5683+58del
ENST00000285968.10:c.5683+57_5683+58del	ENSP00000285968.6:n.5683+57_5683+58del
ENST00000461255.5:n.890+57_890+58del
ENST00000477620.5:c.1405+97_1405+98del
ENST00000490439.1:c.120+57_120+58del
ENST00000607647.5:n.3961+57_3961+58del
NM_015135.2:c.5683+57_5683+58del	NP_055950.1:n.5683+57_5683+58del
XM_005250235.2:c.4609+57_4609+58del	XP_005250292.1:n.4609+57_4609+58del
NM_001329434.1:c.4609+57_4609+58del	NP_001316363.1:n.4609+57_4609+58del
NM_015135.3:c.5683+57_5683+58del MANE Select	NP_055950.2:n.5683+57_5683+58del
NM_001329434.2:c.4609+57_4609+58del	NP_001316363.2:n.4609+57_4609+58del