Canonical Allele Identifier: CA1138819716

Gene: AMELY

Linked Data

• gnomAD v3: Y-6866639-C-CTTTTT
• gnomAD v4: Y-6866639-C-CTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6866656_6866660dup , CM000686.2:g.6866656_6866660dup	GRCh38
NC_000024.9:g.6734697_6734701dup , CM000686.1:g.6734697_6734701dup	GRCh37
NC_000024.8:g.6794697_6794701dup	NCBI36
NG_008011.1:g.12384_12388dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.574-566_574-562dup MANE Select	ENSP00000498344.1:n.574-566_574-562dup
ENST00000215479.10:c.574-566_574-562dup	ENSP00000215479.5:n.574-566_574-562dup
ENST00000651267.1:c.574-566_574-562dup	ENSP00000498344.1:n.574-566_574-562dup
ENST00000215479.9:c.574-566_574-562dup	ENSP00000215479.5:n.574-566_574-562dup
ENST00000383036.1:c.616-566_616-562dup	ENSP00000372505.1:n.616-566_616-562dup
NM_001143.1:c.574-566_574-562dup	NP_001134.1:n.574-566_574-562dup
XM_011531472.1:c.616-566_616-562dup	XP_011529774.1:n.616-566_616-562dup
NM_001364814.1:c.616-566_616-562dup	NP_001351743.1:n.616-566_616-562dup
NM_001143.2:c.574-566_574-562dup MANE Select	NP_001134.1:n.574-566_574-562dup