Canonical Allele Identifier: CA2340161587
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs2038449697
gnomAD v4: 19-48966032-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966033del , CM000681.2:g.48966033del GRCh38
NC_000019.9:g.49469290del , CM000681.1:g.49469290del GRCh37
NC_000019.8:g.54161102del NCBI36
NG_008152.1:g.5725del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.249+117del MANE Select ENSP00000366525.2:n.249+117del
ENST00000331825.10:c.249+117del ENSP00000366525.2:n.249+117del
ENST00000622577.2:c.249+117del ENSP00000484043.1:n.249+117del
NM_000146.3:c.249+117del NP_000137.2:n.249+117del
XM_024451447.1:c.759+117del XP_024307215.1:n.759+117del
NM_000146.4:c.249+117del MANE Select NP_000137.2:n.249+117del
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