Canonical Allele Identifier: CA2469903117
Gene: AMELY HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6866622_6866626delinsTTCAA , CM000686.2:g.6866622_6866626delinsTTCAA GRCh38
NC_000024.9:g.6734663_6734667delinsTTCAA , CM000686.1:g.6734663_6734667delinsTTCAA GRCh37
NC_000024.8:g.6794663_6794667delinsTTCAA NCBI36
NG_008011.1:g.12402_12406delinsTTGAA

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.574-548_574-544delinsTTGAA MANE Select ENSP00000498344.1:n.574-548_574-544delins...
ENST00000215479.10:c.574-548_574-544delinsTTGAA ENSP00000215479.5:n.574-548_574-544delins...
ENST00000651267.1:c.574-548_574-544delinsTTGAA ENSP00000498344.1:n.574-548_574-544delins...
ENST00000215479.9:c.574-548_574-544delinsTTGAA ENSP00000215479.5:n.574-548_574-544delins...
ENST00000383036.1:c.616-548_616-544delinsTTGAA ENSP00000372505.1:n.616-548_616-544delins...
NM_001143.1:c.574-548_574-544delinsTTGAA NP_001134.1:n.574-548_574-544delinsTTGAA
XM_011531472.1:c.616-548_616-544delinsTTGAA XP_011529774.1:n.616-548_616-544delinsTTG...
NM_001364814.1:c.616-548_616-544delinsTTGAA NP_001351743.1:n.616-548_616-544delinsTTG...
NM_001143.2:c.574-548_574-544delinsTTGAA MANE Select NP_001134.1:n.574-548_574-544delinsTTGAA
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