Canonical Allele Identifier: CA713423536
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1376088410
gnomAD v3: 15-48521009-CT-C
gnomAD v4: 15-48521009-CT-C
MyVariant Identifiers: chr15:g.48813207del (hg19) chr15:g.48521010del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48521013del , CM000677.2:g.48521013del GRCh38
NC_000015.9:g.48813210del , CM000677.1:g.48813210del GRCh37
NC_000015.8:g.46600502del NCBI36
NG_008805.2:g.129779del , LRG_778:g.129779del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.989-193del ENSP00000453958.2:n.989-193del
ENST00000674301.2:c.989-193del ENSP00000501333.2:n.989-193del
ENST00000316623.10:c.989-193del MANE Select ENSP00000325527.5:n.989-193del
ENST00000316623.9:c.989-193del ENSP00000325527.5:n.989-193del
ENST00000537463.6:c.636+16701del ENSP00000440294.2:n.636+16701del
NM_000138.4:c.989-193del , LRG_778t1:c.989-193del NP_000129.3:n.989-193del
NM_000138.5:c.989-193del MANE Select NP_000129.3:n.989-193del
Search 100 bp 5'
Search 100 bp 3'