Canonical Allele Identifier: CA713395807

Gene: FBN1

Linked Data

• dbSNP Id: rs1397190100
• gnomAD v3: 15-48434421-CTCTT-C
• gnomAD v4: 15-48434421-CTCTT-C
• MyVariant Identifiers: chr15:g.48726619_48726622del (hg19) ; chr15:g.48434422_48434425del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434424_48434427del , CM000677.2:g.48434424_48434427del	GRCh38
NC_000015.9:g.48726621_48726624del , CM000677.1:g.48726621_48726624del	GRCh37
NC_000015.8:g.46513913_46513916del	NCBI36
NG_008805.2:g.216364_216367del , LRG_778:g.216364_216367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+169_6616+172del	ENSP00000453958.2:n.6616+169_6616+172del
ENST00000674301.2:c.6616+169_6616+172del	ENSP00000501333.2:n.6616+169_6616+172del
ENST00000682170.1:n.225+169_225+172del
ENST00000316623.10:c.6616+169_6616+172del MANE Select	ENSP00000325527.5:n.6616+169_6616+172del
ENST00000674301.1:c.1615+169_1615+172del	ENSP00000501333.1:n.1615+169_1615+172del
ENST00000316623.9:c.6616+169_6616+172del	ENSP00000325527.5:n.6616+169_6616+172del
ENST00000537463.6:c.*2379+169_*2379+172del	ENSP00000440294.2:n.*2379+169_*2379+172del
ENST00000559133.5:c.1923+169_1923+172del
NM_000138.4:c.6616+169_6616+172del , LRG_778t1:c.6616+169_6616+172del	NP_000129.3:n.6616+169_6616+172del
NM_000138.5:c.6616+169_6616+172del MANE Select	NP_000129.3:n.6616+169_6616+172del