Canonical Allele Identifier: CA2766273080

Gene: AMELY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6872719_6872720dup , CM000686.2:g.6872719_6872720dup	GRCh38
NC_000024.9:g.6740760_6740761dup , CM000686.1:g.6740760_6740761dup	GRCh37
NC_000024.8:g.6800760_6800761dup	NCBI36
NG_008011.1:g.6308_6309dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651267.2:c.-12-100_-12-99dup MANE Select	ENSP00000498344.1:n.-12-100_-12-99dup
ENST00000215479.10:c.-12-100_-12-99dup	ENSP00000215479.5:n.-12-100_-12-99dup
ENST00000651267.1:c.-12-100_-12-99dup	ENSP00000498344.1:n.-12-100_-12-99dup
ENST00000215479.9:c.-12-100_-12-99dup	ENSP00000215479.5:n.-12-100_-12-99dup
NM_001143.1:c.-12-100_-12-99dup	NP_001134.1:n.-12-100_-12-99dup
XM_011531472.1:c.-12-100_-12-99dup	XP_011529774.1:n.-12-100_-12-99dup
NM_001364814.1:c.-12-100_-12-99dup	NP_001351743.1:n.-12-100_-12-99dup
NM_001143.2:c.-12-100_-12-99dup MANE Select	NP_001134.1:n.-12-100_-12-99dup