Canonical Allele Identifier: CA2558258198
Gene: AMELY HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872474_6872478del , CM000686.2:g.6872474_6872478del GRCh38
NC_000024.9:g.6740515_6740519del , CM000686.1:g.6740515_6740519del GRCh37
NC_000024.8:g.6800515_6800519del NCBI36
NG_008011.1:g.6551_6555del

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.54+78_54+82del MANE Select ENSP00000498344.1:n.54+78_54+82del
ENST00000215479.10:c.54+78_54+82del ENSP00000215479.5:n.54+78_54+82del
ENST00000651267.1:c.54+78_54+82del ENSP00000498344.1:n.54+78_54+82del
ENST00000215479.9:c.54+78_54+82del ENSP00000215479.5:n.54+78_54+82del
ENST00000383036.1:c.54+78_54+82del ENSP00000372505.1:n.54+78_54+82del
NM_001143.1:c.54+78_54+82del NP_001134.1:n.54+78_54+82del
XM_011531472.1:c.54+78_54+82del XP_011529774.1:n.54+78_54+82del
NM_001364814.1:c.54+78_54+82del NP_001351743.1:n.54+78_54+82del
NM_001143.2:c.54+78_54+82del MANE Select NP_001134.1:n.54+78_54+82del
Search 100 bp 5'
Search 100 bp 3'