Canonical Allele Identifier: CA1138819692

Gene: AMELY

Linked Data

• dbSNP Id: rs769931850
• gnomAD v3: Y-6866639-CT-C
• gnomAD v4: Y-6866639-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6866660del , CM000686.2:g.6866660del	GRCh38
NC_000024.9:g.6734701del , CM000686.1:g.6734701del	GRCh37
NC_000024.8:g.6794701del	NCBI36
NG_008011.1:g.12388del

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.574-562del MANE Select	ENSP00000498344.1:n.574-562del
ENST00000215479.10:c.574-562del	ENSP00000215479.5:n.574-562del
ENST00000651267.1:c.574-562del	ENSP00000498344.1:n.574-562del
ENST00000215479.9:c.574-562del	ENSP00000215479.5:n.574-562del
ENST00000383036.1:c.616-562del	ENSP00000372505.1:n.616-562del
NM_001143.1:c.574-562del	NP_001134.1:n.574-562del
XM_011531472.1:c.616-562del	XP_011529774.1:n.616-562del
NM_001364814.1:c.616-562del	NP_001351743.1:n.616-562del
NM_001143.2:c.574-562del MANE Select	NP_001134.1:n.574-562del