Canonical Allele Identifier: CA2628330885

Gene: FBN1

Linked Data

• gnomAD v4: 15-48489745-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489750del , CM000677.2:g.48489750del	GRCh38
NC_000015.9:g.48781947del , CM000677.1:g.48781947del	GRCh37
NC_000015.8:g.46569239del	NCBI36
NG_008805.2:g.161043del , LRG_778:g.161043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3082+105del	ENSP00000453958.2:n.3082+105del
ENST00000674301.2:c.3082+105del	ENSP00000501333.2:n.3082+105del
ENST00000684448.1:n.1756+105del
ENST00000316623.10:c.3082+105del MANE Select	ENSP00000325527.5:n.3082+105del
ENST00000316623.9:c.3082+105del	ENSP00000325527.5:n.3082+105del
ENST00000537463.6:c.637-15096del	ENSP00000440294.2:n.637-15096del
NM_000138.4:c.3082+105del , LRG_778t1:c.3082+105del	NP_000129.3:n.3082+105del
NM_000138.5:c.3082+105del MANE Select	NP_000129.3:n.3082+105del