Canonical Allele Identifier: CA2545639425
Gene: AMELY HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6866662_6866663insTTT , CM000686.2:g.6866662_6866663insTTT GRCh38
NC_000024.9:g.6734703_6734704insTTT , CM000686.1:g.6734703_6734704insTTT GRCh37
NC_000024.8:g.6794703_6794704insTTT NCBI36
NG_008011.1:g.12365_12366insAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.574-585_574-584insAAA MANE Select ENSP00000498344.1:n.574-585_574-584insAAA...
ENST00000215479.10:c.574-585_574-584insAAA ENSP00000215479.5:n.574-585_574-584insAAA...
ENST00000651267.1:c.574-585_574-584insAAA ENSP00000498344.1:n.574-585_574-584insAAA...
ENST00000215479.9:c.574-585_574-584insAAA ENSP00000215479.5:n.574-585_574-584insAAA...
ENST00000383036.1:c.616-585_616-584insAAA ENSP00000372505.1:n.616-585_616-584insAAA...
NM_001143.1:c.574-585_574-584insAAA NP_001134.1:n.574-585_574-584insAAA
XM_011531472.1:c.616-585_616-584insAAA XP_011529774.1:n.616-585_616-584insAAA
NM_001364814.1:c.616-585_616-584insAAA NP_001351743.1:n.616-585_616-584insAAA
NM_001143.2:c.574-585_574-584insAAA MANE Select NP_001134.1:n.574-585_574-584insAAA
Search 100 bp 5'
Search 100 bp 3'