Canonical Allele Identifier: CA2573150774
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1325488
ClinVar RCV Id: RCV002246100
dbSNP Id: rs2141297440
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48490030_48490063dup , CM000677.2:g.48490030_48490063dup GRCh38
NC_000015.9:g.48782227_48782260dup , CM000677.1:g.48782227_48782260dup GRCh37
NC_000015.8:g.46569519_46569552dup NCBI36
NG_008805.2:g.160731_160764dup , LRG_778:g.160731_160764dup

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2875_2908dup ENSP00000453958.2:p.Pro970LeufsTer33
ENST00000674301.2:c.2875_2908dup ENSP00000501333.2:p.Pro970LeufsTer33
ENST00000684448.1:n.1549_1582dup
ENST00000316623.10:c.2875_2908dup MANE Select ENSP00000325527.5:p.Pro970LeufsTer33
ENST00000316623.9:c.2875_2908dup ENSP00000325527.5:p.Pro970LeufsTer33
ENST00000537463.6:c.637-15408_637-15375dup ENSP00000440294.2:n.637-15408_637-15375du...
NM_000138.4:c.2875_2908dup , LRG_778t1:c.2875_2908dup NP_000129.3:p.Pro970LeufsTer33
NM_000138.5:c.2875_2908dup MANE Select NP_000129.3:p.Pro970LeufsTer33
Search 100 bp 5'
Search 100 bp 3'