Canonical Allele Identifier: CA1138819708

Gene: AMELY

Linked Data

• gnomAD v3: Y-6866639-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: Y-6866639-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6866660_6866661insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000686.2:g.6866660_6866661insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000024.9:g.6734701_6734702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000686.1:g.6734701_6734702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000024.8:g.6794701_6794702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_008011.1:g.12388_12389insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.574-562_574-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000498344.1:n.574-562_574-561insAAA...
ENST00000215479.10:c.574-562_574-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000215479.5:n.574-562_574-561insAAA...
ENST00000651267.1:c.574-562_574-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000498344.1:n.574-562_574-561insAAA...
ENST00000215479.9:c.574-562_574-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000215479.5:n.574-562_574-561insAAA...
ENST00000383036.1:c.616-562_616-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000372505.1:n.616-562_616-561insAAA...
NM_001143.1:c.574-562_574-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001134.1:n.574-562_574-561insAAAAAAAAA...
XM_011531472.1:c.616-562_616-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011529774.1:n.616-562_616-561insAAAAAA...
NM_001364814.1:c.616-562_616-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001351743.1:n.616-562_616-561insAAAAAA...
NM_001143.2:c.574-562_574-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_001134.1:n.574-562_574-561insAAAAAAAAA...