Canonical Allele Identifier: CA633889288
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs1246253794
gnomAD v2: 19-49469019-T-TC
gnomAD v4: 19-48965762-T-TC
MyVariant Identifiers: chr19:g.49469019_49469020insC (hg19) chr19:g.48965762_48965763insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965765dup , CM000681.2:g.48965765dup GRCh38
NC_000019.9:g.49469022dup , CM000681.1:g.49469022dup GRCh37
NC_000019.8:g.54160834dup NCBI36
NG_008152.1:g.5457dup

Transcript Alleles

HGVS Amino-acid change
ENST00000331825.11:c.103-5dup MANE Select ENSP00000366525.2:n.103-5dup
ENST00000331825.10:c.103-5dup ENSP00000366525.2:n.103-5dup
ENST00000622577.2:c.103-5dup ENSP00000484043.1:n.103-5dup
NM_000146.3:c.103-5dup NP_000137.2:n.103-5dup
XM_024451447.1:c.613-5dup XP_024307215.1:n.613-5dup
NM_000146.4:c.103-5dup MANE Select NP_000137.2:n.103-5dup
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Search 100 bp 3'