Canonical Allele Identifier: CA2175520425
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043384354
gnomAD v4: 15-48472510-TCAAGC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472512_48472516del , CM000677.2:g.48472512_48472516del GRCh38
NC_000015.9:g.48764709_48764713del , CM000677.1:g.48764709_48764713del GRCh37
NC_000015.8:g.46552001_46552005del NCBI36
NG_008805.2:g.178274_178278del , LRG_778:g.178274_178278del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4336+36_4336+40del ENSP00000453958.2:n.4336+36_4336+40del
ENST00000674301.2:c.4336+36_4336+40del ENSP00000501333.2:n.4336+36_4336+40del
ENST00000683268.1:n.303+36_303+40del
ENST00000684448.1:n.3010+36_3010+40del
ENST00000316623.10:c.4336+36_4336+40del MANE Select ENSP00000325527.5:n.4336+36_4336+40del
ENST00000316623.9:c.4336+36_4336+40del ENSP00000325527.5:n.4336+36_4336+40del
ENST00000537463.6:c.*99+36_*99+40del ENSP00000440294.2:n.*99+36_*99+40del
NM_000138.4:c.4336+36_4336+40del , LRG_778t1:c.4336+36_4336+40del NP_000129.3:n.4336+36_4336+40del
NM_000138.5:c.4336+36_4336+40del MANE Select NP_000129.3:n.4336+36_4336+40del
Search 100 bp 5'
Search 100 bp 3'