Canonical Allele Identifier: CA2552001584
Gene: AMELY HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872480_6872481insGTCC , CM000686.2:g.6872480_6872481insGTCC GRCh38
NC_000024.9:g.6740521_6740522insGTCC , CM000686.1:g.6740521_6740522insGTCC GRCh37
NC_000024.8:g.6800521_6800522insGTCC NCBI36
NG_008011.1:g.6547_6548insGGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.54+74_54+75insGGAC MANE Select ENSP00000498344.1:n.54+74_54+75insGGAC
ENST00000215479.10:c.54+74_54+75insGGAC ENSP00000215479.5:n.54+74_54+75insGGAC
ENST00000651267.1:c.54+74_54+75insGGAC ENSP00000498344.1:n.54+74_54+75insGGAC
ENST00000215479.9:c.54+74_54+75insGGAC ENSP00000215479.5:n.54+74_54+75insGGAC
ENST00000383036.1:c.54+74_54+75insGGAC ENSP00000372505.1:n.54+74_54+75insGGAC
NM_001143.1:c.54+74_54+75insGGAC NP_001134.1:n.54+74_54+75insGGAC
XM_011531472.1:c.54+74_54+75insGGAC XP_011529774.1:n.54+74_54+75insGGAC
NM_001364814.1:c.54+74_54+75insGGAC NP_001351743.1:n.54+74_54+75insGGAC
NM_001143.2:c.54+74_54+75insGGAC MANE Select NP_001134.1:n.54+74_54+75insGGAC
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