Canonical Allele Identifier: CA2586288218

Gene: FTL

Linked Data

• gnomAD v4: 19-48966045-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48966046del , CM000681.2:g.48966046del	GRCh38
NC_000019.9:g.49469303del , CM000681.1:g.49469303del	GRCh37
NC_000019.8:g.54161115del	NCBI36
NG_008152.1:g.5738del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331825.11:c.249+130del MANE Select	ENSP00000366525.2:n.249+130del
ENST00000331825.10:c.249+130del	ENSP00000366525.2:n.249+130del
ENST00000622577.2:c.249+130del	ENSP00000484043.1:n.249+130del
NM_000146.3:c.249+130del	NP_000137.2:n.249+130del
XM_024451447.1:c.759+130del	XP_024307215.1:n.759+130del
NM_000146.4:c.249+130del MANE Select	NP_000137.2:n.249+130del