Canonical Allele Identifier: CA1138819608

Gene: AMELY

Linked Data

• dbSNP Id: rs2054062027
• gnomAD v3: Y-6866622-TTCAA-T
• gnomAD v4: Y-6866622-TTCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6866628_6866631del , CM000686.2:g.6866628_6866631del	GRCh38
NC_000024.9:g.6734669_6734672del , CM000686.1:g.6734669_6734672del	GRCh37
NC_000024.8:g.6794669_6794672del	NCBI36
NG_008011.1:g.12402_12405del

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.574-548_574-545del MANE Select	ENSP00000498344.1:n.574-548_574-545del
ENST00000215479.10:c.574-548_574-545del	ENSP00000215479.5:n.574-548_574-545del
ENST00000651267.1:c.574-548_574-545del	ENSP00000498344.1:n.574-548_574-545del
ENST00000215479.9:c.574-548_574-545del	ENSP00000215479.5:n.574-548_574-545del
ENST00000383036.1:c.616-548_616-545del	ENSP00000372505.1:n.616-548_616-545del
NM_001143.1:c.574-548_574-545del	NP_001134.1:n.574-548_574-545del
XM_011531472.1:c.616-548_616-545del	XP_011529774.1:n.616-548_616-545del
NM_001364814.1:c.616-548_616-545del	NP_001351743.1:n.616-548_616-545del
NM_001143.2:c.574-548_574-545del MANE Select	NP_001134.1:n.574-548_574-545del