Canonical Allele Identifier: CA969550367
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043144295
gnomAD v3: 15-48445137-C-CACACACACATATATATATACATATATATAT
gnomAD v4: 15-48445137-C-CACACACACATATATATATACATATATATAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445145_48445174dup , CM000677.2:g.48445145_48445174dup GRCh38
NC_000015.9:g.48737342_48737371dup , CM000677.1:g.48737342_48737371dup GRCh37
NC_000015.8:g.46524634_46524663dup NCBI36
NG_008805.2:g.205622_205651dup , LRG_778:g.205622_205651dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+209_5917+238dup ENSP00000453958.2:n.5917+209_5917+238dup
ENST00000674301.2:c.5917+209_5917+238dup ENSP00000501333.2:n.5917+209_5917+238dup
ENST00000684448.1:n.4591+209_4591+238dup
ENST00000316623.10:c.5917+209_5917+238dup MANE Select ENSP00000325527.5:n.5917+209_5917+238dup
ENST00000674301.1:c.916+209_916+238dup ENSP00000501333.1:n.916+209_916+238dup
ENST00000316623.9:c.5917+209_5917+238dup ENSP00000325527.5:n.5917+209_5917+238dup
ENST00000537463.6:c.*1680+209_*1680+238dup ENSP00000440294.2:n.*1680+209_*1680+238dup
ENST00000559133.5:c.1224+209_1224+238dup
ENST00000560820.1:n.37+209_37+238dup
NM_000138.4:c.5917+209_5917+238dup , LRG_778t1:c.5917+209_5917+238dup NP_000129.3:n.5917+209_5917+238dup
NM_000138.5:c.5917+209_5917+238dup MANE Select NP_000129.3:n.5917+209_5917+238dup
Search 100 bp 5'
Search 100 bp 3'