Canonical Allele Identifier: CA969550397
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043144586
gnomAD v3: 15-48445143-C-CACATATATATATACATATATATATACACACATATATATATGTATATATATAT
gnomAD v4: 15-48445143-C-CACATATATATATACATATATATATACACACATATATATATGTATATATATAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445156_48445207dup , CM000677.2:g.48445156_48445207dup GRCh38
NC_000015.9:g.48737353_48737404dup , CM000677.1:g.48737353_48737404dup GRCh37
NC_000015.8:g.46524645_46524696dup NCBI36
NG_008805.2:g.205594_205645dup , LRG_778:g.205594_205645dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+181_5917+232dup ENSP00000453958.2:n.5917+181_5917+232dup
ENST00000674301.2:c.5917+181_5917+232dup ENSP00000501333.2:n.5917+181_5917+232dup
ENST00000684448.1:n.4591+181_4591+232dup
ENST00000316623.10:c.5917+181_5917+232dup MANE Select ENSP00000325527.5:n.5917+181_5917+232dup
ENST00000674301.1:c.916+181_916+232dup ENSP00000501333.1:n.916+181_916+232dup
ENST00000316623.9:c.5917+181_5917+232dup ENSP00000325527.5:n.5917+181_5917+232dup
ENST00000537463.6:c.*1680+181_*1680+232dup ENSP00000440294.2:n.*1680+181_*1680+232dup
ENST00000559133.5:c.1224+181_1224+232dup
ENST00000560820.1:n.37+181_37+232dup
NM_000138.4:c.5917+181_5917+232dup , LRG_778t1:c.5917+181_5917+232dup NP_000129.3:n.5917+181_5917+232dup
NM_000138.5:c.5917+181_5917+232dup MANE Select NP_000129.3:n.5917+181_5917+232dup
Search 100 bp 5'
Search 100 bp 3'