Canonical Allele Identifier: CA2586288206

Gene: FTL

Linked Data

• gnomAD v4: 19-48966026-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48966028dup , CM000681.2:g.48966028dup	GRCh38
NC_000019.9:g.49469285dup , CM000681.1:g.49469285dup	GRCh37
NC_000019.8:g.54161097dup	NCBI36
NG_008152.1:g.5720dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331825.11:c.249+112dup MANE Select	ENSP00000366525.2:n.249+112dup
ENST00000331825.10:c.249+112dup	ENSP00000366525.2:n.249+112dup
ENST00000622577.2:c.249+112dup	ENSP00000484043.1:n.249+112dup
NM_000146.3:c.249+112dup	NP_000137.2:n.249+112dup
XM_024451447.1:c.759+112dup	XP_024307215.1:n.759+112dup
NM_000146.4:c.249+112dup MANE Select	NP_000137.2:n.249+112dup