Canonical Allele Identifier: CA2469903485

Gene: AMELY

Linked Data

• dbSNP Id: rs2054069336

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6872690_6872691insC , CM000686.2:g.6872690_6872691insC	GRCh38
NC_000024.9:g.6740731_6740732insC , CM000686.1:g.6740731_6740732insC	GRCh37
NC_000024.8:g.6800731_6800732insC	NCBI36
NG_008011.1:g.6337_6338insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651267.2:c.-12-71_-12-70insG MANE Select	ENSP00000498344.1:n.-12-71_-12-70insG
ENST00000215479.10:c.-12-71_-12-70insG	ENSP00000215479.5:n.-12-71_-12-70insG
ENST00000651267.1:c.-12-71_-12-70insG	ENSP00000498344.1:n.-12-71_-12-70insG
ENST00000215479.9:c.-12-71_-12-70insG	ENSP00000215479.5:n.-12-71_-12-70insG
NM_001143.1:c.-12-71_-12-70insG	NP_001134.1:n.-12-71_-12-70insG
XM_011531472.1:c.-12-71_-12-70insG	XP_011529774.1:n.-12-71_-12-70insG
NM_001364814.1:c.-12-71_-12-70insG	NP_001351743.1:n.-12-71_-12-70insG
NM_001143.2:c.-12-71_-12-70insG MANE Select	NP_001134.1:n.-12-71_-12-70insG