Canonical Allele Identifier: CA2469903119

Gene: AMELY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6866639_6866649delinsCTTTTTTTTTT , CM000686.2:g.6866639_6866649delinsCTTTTTTTTTT	GRCh38
NC_000024.9:g.6734680_6734690delinsCTTTTTTTTTT , CM000686.1:g.6734680_6734690delinsCTTTTTTTTTT	GRCh37
NC_000024.8:g.6794680_6794690delinsCTTTTTTTTTT	NCBI36
NG_008011.1:g.12379_12389delinsAAAAAAAAAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.574-571_574-561delinsAAAAAAAAAAG MANE Select	ENSP00000498344.1:n.574-571_574-561delins...
ENST00000215479.10:c.574-571_574-561delinsAAAAAAAAAAG	ENSP00000215479.5:n.574-571_574-561delins...
ENST00000651267.1:c.574-571_574-561delinsAAAAAAAAAAG	ENSP00000498344.1:n.574-571_574-561delins...
ENST00000215479.9:c.574-571_574-561delinsAAAAAAAAAAG	ENSP00000215479.5:n.574-571_574-561delins...
ENST00000383036.1:c.616-571_616-561delinsAAAAAAAAAAG	ENSP00000372505.1:n.616-571_616-561delins...
NM_001143.1:c.574-571_574-561delinsAAAAAAAAAAG	NP_001134.1:n.574-571_574-561delinsAAAAAA...
XM_011531472.1:c.616-571_616-561delinsAAAAAAAAAAG	XP_011529774.1:n.616-571_616-561delinsAAA...
NM_001364814.1:c.616-571_616-561delinsAAAAAAAAAAG	NP_001351743.1:n.616-571_616-561delinsAAA...
NM_001143.2:c.574-571_574-561delinsAAAAAAAAAAG MANE Select	NP_001134.1:n.574-571_574-561delinsAAAAAA...