Canonical Allele Identifier: CA713383113
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1328682992
MyVariant Identifiers: chr15:g.48776303del (hg19) chr15:g.48484106del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48484107del , CM000677.2:g.48484107del GRCh38
NC_000015.9:g.48776304del , CM000677.1:g.48776304del GRCh37
NC_000015.8:g.46563596del NCBI36
NG_008805.2:g.166683del , LRG_778:g.166683del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3713-163del ENSP00000453958.2:n.3713-163del
ENST00000674301.2:c.3713-163del ENSP00000501333.2:n.3713-163del
ENST00000684448.1:n.2387-163del
ENST00000316623.10:c.3713-163del MANE Select ENSP00000325527.5:n.3713-163del
ENST00000316623.9:c.3713-163del ENSP00000325527.5:n.3713-163del
ENST00000537463.6:c.637-9456del ENSP00000440294.2:n.637-9456del
NM_000138.4:c.3713-163del , LRG_778t1:c.3713-163del NP_000129.3:n.3713-163del
NM_000138.5:c.3713-163del MANE Select NP_000129.3:n.3713-163del
Search 100 bp 5'
Search 100 bp 3'