Canonical Allele Identifier: CA996657947
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs2038450197
gnomAD v3: 19-48966066-C-CG
gnomAD v4: 19-48966066-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966067dup , CM000681.2:g.48966067dup GRCh38
NC_000019.9:g.49469324dup , CM000681.1:g.49469324dup GRCh37
NC_000019.8:g.54161136dup NCBI36
NG_008152.1:g.5759dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.249+151dup MANE Select ENSP00000366525.2:n.249+151dup
ENST00000331825.10:c.249+151dup ENSP00000366525.2:n.249+151dup
ENST00000622577.2:c.249+151dup ENSP00000484043.1:n.249+151dup
NM_000146.3:c.249+151dup NP_000137.2:n.249+151dup
XM_024451447.1:c.759+151dup XP_024307215.1:n.759+151dup
NM_000146.4:c.249+151dup MANE Select NP_000137.2:n.249+151dup
Search 100 bp 5'
Search 100 bp 3'