Canonical Allele Identifier: CA969540587

Gene: FBN1

Linked Data

• dbSNP Id: rs2042941342
• gnomAD v3: 15-48421543-GA-G
• gnomAD v4: 15-48421543-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421545del , CM000677.2:g.48421545del	GRCh38
NC_000015.9:g.48713742del , CM000677.1:g.48713742del	GRCh37
NC_000015.8:g.46501034del	NCBI36
NG_008805.2:g.229245del , LRG_778:g.229245del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*507+14del	ENSP00000453958.2:n.*507+14del
ENST00000674301.2:c.*1212+14del	ENSP00000501333.2:n.*1212+14del
ENST00000682170.1:n.1880+14del
ENST00000682767.1:n.996+14del
ENST00000316623.10:c.7699+14del MANE Select	ENSP00000325527.5:n.7699+14del
ENST00000674301.1:c.2865+14del	ENSP00000501333.1:n.2865+14del
ENST00000316623.9:c.7699+14del	ENSP00000325527.5:n.7699+14del
ENST00000559133.5:c.3068+14del
NM_000138.4:c.7699+14del , LRG_778t1:c.7699+14del	NP_000129.3:n.7699+14del
NM_000138.5:c.7699+14del MANE Select	NP_000129.3:n.7699+14del