Canonical Allele Identifier: CA126553

Gene: FTL

Linked Data

• ClinVar Variation Id: 16478
• ClinVar RCV Id: RCV000017942
• dbSNP Id: rs1555796939
• MyVariant Identifiers: chr19:g.49468575_49468603del (hg19) ; chr19:g.48965318_48965346del (hg38)
• PubMed: PMID:9292547 ; PMID:11703332 ; PMID:23421845

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48965319_48965347del , CM000681.2:g.48965319_48965347del	GRCh38
NC_000019.9:g.49468576_49468604del , CM000681.1:g.49468576_49468604del	GRCh37
NC_000019.8:g.54160388_54160416del	NCBI36
NG_008152.1:g.5011_5039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331825.11:c.-189_-161del MANE Select	ENSP00000366525.2:n.-189_-161del
ENST00000331825.10:c.-189_-161del	ENSP00000366525.2:n.-189_-161del
ENST00000622577.2:c.-189_-161del	ENSP00000484043.1:n.-189_-161del
NM_000146.3:c.-189_-161del	NP_000137.2:n.-189_-161del
XM_024451447.1:c.322_350del	XP_024307215.1:p.Gly108SerfsTer?
NM_000146.4:c.-189_-161del MANE Select	NP_000137.2:n.-189_-161del