Canonical Allele Identifier: CA1138822820
Gene: AMELY HGNC NCBI

Linked Data

dbSNP Id: rs2054068987
gnomAD v3: Y-6872539-AG-A
gnomAD v4: Y-6872539-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872540del , CM000686.2:g.6872540del GRCh38
NC_000024.9:g.6740581del , CM000686.1:g.6740581del GRCh37
NC_000024.8:g.6800581del NCBI36
NG_008011.1:g.6488del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.54+15del MANE Select ENSP00000498344.1:n.54+15del
ENST00000215479.10:c.54+15del ENSP00000215479.5:n.54+15del
ENST00000651267.1:c.54+15del ENSP00000498344.1:n.54+15del
ENST00000215479.9:c.54+15del ENSP00000215479.5:n.54+15del
ENST00000383036.1:c.54+15del ENSP00000372505.1:n.54+15del
NM_001143.1:c.54+15del NP_001134.1:n.54+15del
XM_011531472.1:c.54+15del XP_011529774.1:n.54+15del
NM_001364814.1:c.54+15del NP_001351743.1:n.54+15del
NM_001143.2:c.54+15del MANE Select NP_001134.1:n.54+15del
Search 100 bp 5'
Search 100 bp 3'