Canonical Allele Identifier: CA969557710

Gene: FBN1

Linked Data

• dbSNP Id: rs2043538994
• gnomAD v3: 15-48489676-TTGGAC-T
• gnomAD v4: 15-48489676-TTGGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489677_48489681del , CM000677.2:g.48489677_48489681del	GRCh38
NC_000015.9:g.48781874_48781878del , CM000677.1:g.48781874_48781878del	GRCh37
NC_000015.8:g.46569166_46569170del	NCBI36
NG_008805.2:g.161108_161112del , LRG_778:g.161108_161112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3082+170_3082+174del	ENSP00000453958.2:n.3082+170_3082+174del
ENST00000674301.2:c.3082+170_3082+174del	ENSP00000501333.2:n.3082+170_3082+174del
ENST00000684448.1:n.1756+170_1756+174del
ENST00000316623.10:c.3082+170_3082+174del MANE Select	ENSP00000325527.5:n.3082+170_3082+174del
ENST00000316623.9:c.3082+170_3082+174del	ENSP00000325527.5:n.3082+170_3082+174del
ENST00000537463.6:c.637-15031_637-15027del	ENSP00000440294.2:n.637-15031_637-15027del
NM_000138.4:c.3082+170_3082+174del , LRG_778t1:c.3082+170_3082+174del	NP_000129.3:n.3082+170_3082+174del
NM_000138.5:c.3082+170_3082+174del MANE Select	NP_000129.3:n.3082+170_3082+174del