Canonical Allele Identifier: CA2586288276

Gene: FTL

Linked Data

• gnomAD v4: 19-48966093-C-CCACA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48966095_48966098dup , CM000681.2:g.48966095_48966098dup	GRCh38
NC_000019.9:g.49469352_49469355dup , CM000681.1:g.49469352_49469355dup	GRCh37
NC_000019.8:g.54161164_54161167dup	NCBI36
NG_008152.1:g.5787_5790dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331825.11:c.249+179_250-183dup MANE Select	ENSP00000366525.2:n.249+179_250-183dup
ENST00000331825.10:c.249+179_250-183dup	ENSP00000366525.2:n.249+179_250-183dup
ENST00000622577.2:c.249+179_250-183dup	ENSP00000484043.1:n.249+179_250-183dup
NM_000146.3:c.249+179_250-183dup	NP_000137.2:n.249+179_250-183dup
XM_024451447.1:c.759+179_760-183dup	XP_024307215.1:n.759+179_760-183dup
NM_000146.4:c.249+179_250-183dup MANE Select	NP_000137.2:n.249+179_250-183dup