Canonical Allele Identifier: CA2685060166
Gene: NUP205 HGNC NCBI

Linked Data

gnomAD v4: 7-135645141-A-ATT
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.135645141_135645142insTT , CM000669.2:g.135645141_135645142insTT GRCh38
NC_000007.13:g.135329889_135329890insTT , CM000669.1:g.135329889_135329890insTT GRCh37
NC_000007.12:g.134980429_134980430insTT NCBI36
NG_051184.1:g.92228_92229insTT

Transcript Alleles

HGVS Amino-acid change
ENST00000285968.11:c.5683+123_5683+124insTT MANE Select ENSP00000285968.6:n.5683+123_5683+124insT...
ENST00000285968.10:c.5683+123_5683+124insTT ENSP00000285968.6:n.5683+123_5683+124insT...
ENST00000461255.5:n.890+123_890+124insTT
ENST00000477620.5:c.1405+163_1405+164insTT
ENST00000490439.1:c.120+123_120+124insTT
ENST00000607647.5:n.3961+123_3961+124insTT
NM_015135.2:c.5683+123_5683+124insTT NP_055950.1:n.5683+123_5683+124insTT
XM_005250235.2:c.4609+123_4609+124insTT XP_005250292.1:n.4609+123_4609+124insTT
NM_001329434.1:c.4609+123_4609+124insTT NP_001316363.1:n.4609+123_4609+124insTT
NM_015135.3:c.5683+123_5683+124insTT MANE Select NP_055950.2:n.5683+123_5683+124insTT
NM_001329434.2:c.4609+123_4609+124insTT NP_001316363.2:n.4609+123_4609+124insTT
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