Canonical Allele Identifier: CA633607478
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs1231103063
gnomAD v2: 19-49469290-GC-G
gnomAD v3: 19-48966033-GC-G
gnomAD v4: 19-48966033-GC-G
MyVariant Identifiers: chr19:g.49469291del (hg19) chr19:g.48966034del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966036del , CM000681.2:g.48966036del GRCh38
NC_000019.9:g.49469293del , CM000681.1:g.49469293del GRCh37
NC_000019.8:g.54161105del NCBI36
NG_008152.1:g.5728del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.249+120del MANE Select ENSP00000366525.2:n.249+120del
ENST00000331825.10:c.249+120del ENSP00000366525.2:n.249+120del
ENST00000622577.2:c.249+120del ENSP00000484043.1:n.249+120del
NM_000146.3:c.249+120del NP_000137.2:n.249+120del
XM_024451447.1:c.759+120del XP_024307215.1:n.759+120del
NM_000146.4:c.249+120del MANE Select NP_000137.2:n.249+120del
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