Canonical Allele Identifier: CA2340161586
Gene: FTL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966032_48966033delinsAG , CM000681.2:g.48966032_48966033delinsAG GRCh38
NC_000019.9:g.49469289_49469290delinsAG , CM000681.1:g.49469289_49469290delinsAG GRCh37
NC_000019.8:g.54161101_54161102delinsAG NCBI36
NG_008152.1:g.5724_5725delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.249+116_249+117delinsAG MANE Select ENSP00000366525.2:n.249+116_249+117delinsAG
ENST00000331825.10:c.249+116_249+117delinsAG ENSP00000366525.2:n.249+116_249+117delinsAG
ENST00000622577.2:c.249+116_249+117delinsAG ENSP00000484043.1:n.249+116_249+117delinsAG
NM_000146.3:c.249+116_249+117delinsAG NP_000137.2:n.249+116_249+117delinsAG
XM_024451447.1:c.759+116_759+117delinsAG XP_024307215.1:n.759+116_759+117delinsAG
NM_000146.4:c.249+116_249+117delinsAG MANE Select NP_000137.2:n.249+116_249+117delinsAG