Canonical Allele Identifier: CA969550418
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1566898289
gnomAD v3: 15-48445145-C-CATATATATATACATATATATATACACACATATATATATGT
gnomAD v4: 15-48445145-C-CATATATATATACATATATATATACACACATATATATATGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445168_48445207dup , CM000677.2:g.48445168_48445207dup GRCh38
NC_000015.9:g.48737365_48737404dup , CM000677.1:g.48737365_48737404dup GRCh37
NC_000015.8:g.46524657_46524696dup NCBI36
NG_008805.2:g.205604_205643dup , LRG_778:g.205604_205643dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+191_5917+230dup ENSP00000453958.2:n.5917+191_5917+230dup
ENST00000674301.2:c.5917+191_5917+230dup ENSP00000501333.2:n.5917+191_5917+230dup
ENST00000684448.1:n.4591+191_4591+230dup
ENST00000316623.10:c.5917+191_5917+230dup MANE Select ENSP00000325527.5:n.5917+191_5917+230dup
ENST00000674301.1:c.916+191_916+230dup ENSP00000501333.1:n.916+191_916+230dup
ENST00000316623.9:c.5917+191_5917+230dup ENSP00000325527.5:n.5917+191_5917+230dup
ENST00000537463.6:c.*1680+191_*1680+230dup ENSP00000440294.2:n.*1680+191_*1680+230dup
ENST00000559133.5:c.1224+191_1224+230dup
ENST00000560820.1:n.37+191_37+230dup
NM_000138.4:c.5917+191_5917+230dup , LRG_778t1:c.5917+191_5917+230dup NP_000129.3:n.5917+191_5917+230dup
NM_000138.5:c.5917+191_5917+230dup MANE Select NP_000129.3:n.5917+191_5917+230dup
Search 100 bp 5'
Search 100 bp 3'