Canonical Allele Identifier: CA2685060156
Gene: NUP205 HGNC NCBI

Linked Data

gnomAD v4: 7-135645133-TTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.135645134_135645135del , CM000669.2:g.135645134_135645135del GRCh38
NC_000007.13:g.135329882_135329883del , CM000669.1:g.135329882_135329883del GRCh37
NC_000007.12:g.134980422_134980423del NCBI36
NG_051184.1:g.92221_92222del

Transcript Alleles

HGVS Amino-acid change
ENST00000285968.11:c.5683+116_5683+117del MANE Select ENSP00000285968.6:n.5683+116_5683+117del
ENST00000285968.10:c.5683+116_5683+117del ENSP00000285968.6:n.5683+116_5683+117del
ENST00000461255.5:n.890+116_890+117del
ENST00000477620.5:c.1405+156_1405+157del
ENST00000490439.1:c.120+116_120+117del
ENST00000607647.5:n.3961+116_3961+117del
NM_015135.2:c.5683+116_5683+117del NP_055950.1:n.5683+116_5683+117del
XM_005250235.2:c.4609+116_4609+117del XP_005250292.1:n.4609+116_4609+117del
NM_001329434.1:c.4609+116_4609+117del NP_001316363.1:n.4609+116_4609+117del
NM_015135.3:c.5683+116_5683+117del MANE Select NP_055950.2:n.5683+116_5683+117del
NM_001329434.2:c.4609+116_4609+117del NP_001316363.2:n.4609+116_4609+117del
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