Canonical Allele Identifier: CA2685060305

Gene: NUP205

Linked Data

• gnomAD v4: 7-135645389-C-CTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645395_135645396insTTTTTTTT , CM000669.2:g.135645395_135645396insTTTTTTTT	GRCh38
NC_000007.13:g.135330143_135330144insTTTTTTTT , CM000669.1:g.135330143_135330144insTTTTTTTT	GRCh37
NC_000007.12:g.134980683_134980684insTTTTTTTT	NCBI36
NG_051184.1:g.92482_92483insTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5684-73_5684-72insTTTTTTTT MANE Select	ENSP00000285968.6:n.5684-73_5684-72insTTTTTTTT
ENST00000285968.10:c.5684-73_5684-72insTTTTTTTT	ENSP00000285968.6:n.5684-73_5684-72insTTTTTTTT
ENST00000461255.5:n.891-73_891-72insTTTTTTTT
ENST00000477620.5:c.1405+417_1405+418insTTTTTTTT
ENST00000490439.1:c.120+377_120+378insTTTTTTTT
ENST00000607647.5:n.3962-73_3962-72insTTTTTTTT
NM_015135.2:c.5684-73_5684-72insTTTTTTTT	NP_055950.1:n.5684-73_5684-72insTTTTTTTT
XM_005250235.2:c.4610-73_4610-72insTTTTTTTT	XP_005250292.1:n.4610-73_4610-72insTTTTTTTT
NM_001329434.1:c.4610-73_4610-72insTTTTTTTT	NP_001316363.1:n.4610-73_4610-72insTTTTTTTT
NM_015135.3:c.5684-73_5684-72insTTTTTTTT MANE Select	NP_055950.2:n.5684-73_5684-72insTTTTTTTT
NM_001329434.2:c.4610-73_4610-72insTTTTTTTT	NP_001316363.2:n.4610-73_4610-72insTTTTTTTT