Canonical Allele Identifier: CA2685060188
Gene: NUP205 HGNC NCBI

Linked Data

gnomAD v4: 7-135645168-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.135645173del , CM000669.2:g.135645173del GRCh38
NC_000007.13:g.135329921del , CM000669.1:g.135329921del GRCh37
NC_000007.12:g.134980461del NCBI36
NG_051184.1:g.92260del

Transcript Alleles

HGVS Amino-acid change
ENST00000285968.11:c.5683+155del MANE Select ENSP00000285968.6:n.5683+155del
ENST00000285968.10:c.5683+155del ENSP00000285968.6:n.5683+155del
ENST00000461255.5:n.890+155del
ENST00000477620.5:c.1405+195del
ENST00000490439.1:c.120+155del
ENST00000607647.5:n.3961+155del
NM_015135.2:c.5683+155del NP_055950.1:n.5683+155del
XM_005250235.2:c.4609+155del XP_005250292.1:n.4609+155del
NM_001329434.1:c.4609+155del NP_001316363.1:n.4609+155del
NM_015135.3:c.5683+155del MANE Select NP_055950.2:n.5683+155del
NM_001329434.2:c.4609+155del NP_001316363.2:n.4609+155del
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