Canonical Allele Identifier: CA713396375
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1295574697
MyVariant Identifiers: chr15:g.48740913_48740916del (hg19) chr15:g.48448716_48448719del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48448716_48448719del , CM000677.2:g.48448716_48448719del GRCh38
NC_000015.9:g.48740913_48740916del , CM000677.1:g.48740913_48740916del GRCh37
NC_000015.8:g.46528205_46528208del NCBI36
NG_008805.2:g.202070_202073del , LRG_778:g.202070_202073del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5671+49_5671+52del ENSP00000453958.2:n.5671+49_5671+52del
ENST00000674301.2:c.5671+49_5671+52del ENSP00000501333.2:n.5671+49_5671+52del
ENST00000684448.1:n.4345+49_4345+52del
ENST00000316623.10:c.5671+49_5671+52del MANE Select ENSP00000325527.5:n.5671+49_5671+52del
ENST00000674301.1:c.670+49_670+52del ENSP00000501333.1:n.670+49_670+52del
ENST00000316623.9:c.5671+49_5671+52del ENSP00000325527.5:n.5671+49_5671+52del
ENST00000537463.6:c.*1434+49_*1434+52del ENSP00000440294.2:n.*1434+49_*1434+52del
ENST00000559133.5:c.978+49_978+52del
NM_000138.4:c.5671+49_5671+52del , LRG_778t1:c.5671+49_5671+52del NP_000129.3:n.5671+49_5671+52del
NM_000138.5:c.5671+49_5671+52del MANE Select NP_000129.3:n.5671+49_5671+52del
Search 100 bp 5'
Search 100 bp 3'