Canonical Allele Identifier: CA2565577333
Gene: AMELY HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872691dup , CM000686.2:g.6872691dup GRCh38
NC_000024.9:g.6740732dup , CM000686.1:g.6740732dup GRCh37
NC_000024.8:g.6800732dup NCBI36
NG_008011.1:g.6342dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.-12-66dup MANE Select ENSP00000498344.1:n.-12-66dup
ENST00000215479.10:c.-12-66dup ENSP00000215479.5:n.-12-66dup
ENST00000651267.1:c.-12-66dup ENSP00000498344.1:n.-12-66dup
ENST00000215479.9:c.-12-66dup ENSP00000215479.5:n.-12-66dup
NM_001143.1:c.-12-66dup NP_001134.1:n.-12-66dup
XM_011531472.1:c.-12-66dup XP_011529774.1:n.-12-66dup
NM_001364814.1:c.-12-66dup NP_001351743.1:n.-12-66dup
NM_001143.2:c.-12-66dup MANE Select NP_001134.1:n.-12-66dup
Search 100 bp 5'
Search 100 bp 3'