Canonical Allele Identifier: CA2469903461

Gene: AMELY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6872523_6872524delinsGA , CM000686.2:g.6872523_6872524delinsGA	GRCh38
NC_000024.9:g.6740564_6740565delinsGA , CM000686.1:g.6740564_6740565delinsGA	GRCh37
NC_000024.8:g.6800564_6800565delinsGA	NCBI36
NG_008011.1:g.6504_6505delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651267.2:c.54+31_54+32delinsTC MANE Select	ENSP00000498344.1:n.54+31_54+32delinsTC
ENST00000215479.10:c.54+31_54+32delinsTC	ENSP00000215479.5:n.54+31_54+32delinsTC
ENST00000651267.1:c.54+31_54+32delinsTC	ENSP00000498344.1:n.54+31_54+32delinsTC
ENST00000215479.9:c.54+31_54+32delinsTC	ENSP00000215479.5:n.54+31_54+32delinsTC
ENST00000383036.1:c.54+31_54+32delinsTC	ENSP00000372505.1:n.54+31_54+32delinsTC
NM_001143.1:c.54+31_54+32delinsTC	NP_001134.1:n.54+31_54+32delinsTC
XM_011531472.1:c.54+31_54+32delinsTC	XP_011529774.1:n.54+31_54+32delinsTC
NM_001364814.1:c.54+31_54+32delinsTC	NP_001351743.1:n.54+31_54+32delinsTC
NM_001143.2:c.54+31_54+32delinsTC MANE Select	NP_001134.1:n.54+31_54+32delinsTC