Canonical Allele Identifier: CA269532468
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1188441
ClinVar RCV Id: RCV001548236
dbSNP Id: rs549747216
gnomAD v2: 15-48737342-CAT-C
gnomAD v3: 15-48445145-CAT-C
gnomAD v4: 15-48445145-CAT-C
MyVariant Identifiers: chr15:g.48737343_48737344del (hg19) chr15:g.48737352_48737382delinsCATATATATATACACACATATATATATGT (hg19) chr15:g.48445146_48445147del (hg38) chr15:g.48445155_48445185delinsCATATATATATACACACATATATATATGT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445155_48445156del , CM000677.2:g.48445155_48445156del GRCh38
NC_000015.9:g.48737352_48737353del , CM000677.1:g.48737352_48737353del GRCh37
NC_000015.8:g.46524644_46524645del NCBI36
NG_008805.2:g.205642_205643del , LRG_778:g.205642_205643del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+229_5917+230del ENSP00000453958.2:n.5917+229_5917+230del
ENST00000674301.2:c.5917+229_5917+230del ENSP00000501333.2:n.5917+229_5917+230del
ENST00000684448.1:n.4591+229_4591+230del
ENST00000316623.10:c.5917+229_5917+230del MANE Select ENSP00000325527.5:n.5917+229_5917+230del
ENST00000674301.1:c.916+229_916+230del ENSP00000501333.1:n.916+229_916+230del
ENST00000316623.9:c.5917+229_5917+230del ENSP00000325527.5:n.5917+229_5917+230del
ENST00000537463.6:c.*1680+229_*1680+230del ENSP00000440294.2:n.*1680+229_*1680+230del
ENST00000559133.5:c.1224+229_1224+230del
ENST00000560820.1:n.37+229_37+230del
NM_000138.4:c.5917+229_5917+230del , LRG_778t1:c.5917+229_5917+230del NP_000129.3:n.5917+229_5917+230del
NM_000138.5:c.5917+229_5917+230del MANE Select NP_000129.3:n.5917+229_5917+230del
Search 100 bp 5'
Search 100 bp 3'