Canonical Allele Identifier: CA2469903475

Gene: AMELY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6872591_6872592delinsCA , CM000686.2:g.6872591_6872592delinsCA	GRCh38
NC_000024.9:g.6740632_6740633delinsCA , CM000686.1:g.6740632_6740633delinsCA	GRCh37
NC_000024.8:g.6800632_6800633delinsCA	NCBI36
NG_008011.1:g.6436_6437delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651267.2:c.17_18delinsTG MANE Select	ENSP00000498344.1:p.Leu6=
ENST00000215479.10:c.17_18delinsTG	ENSP00000215479.5:p.Leu6=
ENST00000651267.1:c.17_18delinsTG	ENSP00000498344.1:p.Leu6=
ENST00000215479.9:c.17_18delinsTG	ENSP00000215479.5:p.Leu6=
ENST00000383036.1:c.17_18delinsTG	ENSP00000372505.1:p.Leu6=
NM_001143.1:c.17_18delinsTG	NP_001134.1:p.Leu6=
XM_011531472.1:c.17_18delinsTG	XP_011529774.1:p.Leu6=
NM_001364814.1:c.17_18delinsTG	NP_001351743.1:p.Leu6=
NM_001143.2:c.17_18delinsTG MANE Select	NP_001134.1:p.Leu6=