Canonical Allele Identifier: CA1138819622

Gene: AMELY

Linked Data

• gnomAD v3: Y-6866635-C-CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: Y-6866635-C-CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6866660_6866661insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT , CM000686.2:g.6866660_6866661insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000024.9:g.6734701_6734702insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT , CM000686.1:g.6734701_6734702insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000024.8:g.6794701_6794702insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_008011.1:g.12392_12393insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA MANE Select	ENSP00000498344.1:n.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000215479.10:c.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA	ENSP00000215479.5:n.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000651267.1:c.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA	ENSP00000498344.1:n.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000215479.9:c.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA	ENSP00000215479.5:n.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000383036.1:c.616-558_616-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA	ENSP00000372505.1:n.616-558_616-557insAAAAAAAAAAAAAAAAAAAAAAA...
NM_001143.1:c.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA	NP_001134.1:n.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011531472.1:c.616-558_616-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA	XP_011529774.1:n.616-558_616-557insAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001364814.1:c.616-558_616-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA	NP_001351743.1:n.616-558_616-557insAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001143.2:c.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA MANE Select	NP_001134.1:n.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...