Canonical Allele Identifier: CA713403467
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1331245019
MyVariant Identifiers: chr15:g.48826225_48826226insT (hg19) chr15:g.48534028_48534029insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48534032dup , CM000677.2:g.48534032dup GRCh38
NC_000015.9:g.48826229dup , CM000677.1:g.48826229dup GRCh37
NC_000015.8:g.46613521dup NCBI36
NG_008805.2:g.116760dup , LRG_778:g.116760dup

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.862+51dup ENSP00000453958.2:n.862+51dup
ENST00000674301.2:c.862+51dup ENSP00000501333.2:n.862+51dup
ENST00000316623.10:c.862+51dup MANE Select ENSP00000325527.5:n.862+51dup
ENST00000316623.9:c.862+51dup ENSP00000325527.5:n.862+51dup
ENST00000537463.6:c.636+3682dup ENSP00000440294.2:n.636+3682dup
NM_000138.4:c.862+51dup , LRG_778t1:c.862+51dup NP_000129.3:n.862+51dup
NM_000138.5:c.862+51dup MANE Select NP_000129.3:n.862+51dup
Search 100 bp 5'
Search 100 bp 3'