Canonical Allele Identifier: CA2569759048

Gene: AMELY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6866649_6866650insA , CM000686.2:g.6866649_6866650insA	GRCh38
NC_000024.9:g.6734690_6734691insA , CM000686.1:g.6734690_6734691insA	GRCh37
NC_000024.8:g.6794690_6794691insA	NCBI36
NG_008011.1:g.12378_12379insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.574-572_574-571insT MANE Select	ENSP00000498344.1:n.574-572_574-571insT
ENST00000215479.10:c.574-572_574-571insT	ENSP00000215479.5:n.574-572_574-571insT
ENST00000651267.1:c.574-572_574-571insT	ENSP00000498344.1:n.574-572_574-571insT
ENST00000215479.9:c.574-572_574-571insT	ENSP00000215479.5:n.574-572_574-571insT
ENST00000383036.1:c.616-572_616-571insT	ENSP00000372505.1:n.616-572_616-571insT
NM_001143.1:c.574-572_574-571insT	NP_001134.1:n.574-572_574-571insT
XM_011531472.1:c.616-572_616-571insT	XP_011529774.1:n.616-572_616-571insT
NM_001364814.1:c.616-572_616-571insT	NP_001351743.1:n.616-572_616-571insT
NM_001143.2:c.574-572_574-571insT MANE Select	NP_001134.1:n.574-572_574-571insT