Canonical Allele Identifier: CA969540686

Gene: FBN1

Linked Data

• dbSNP Id: rs2042944644
• gnomAD v3: 15-48421801-TTCA-T
• gnomAD v4: 15-48421801-TTCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421802_48421804del , CM000677.2:g.48421802_48421804del	GRCh38
NC_000015.9:g.48713999_48714001del , CM000677.1:g.48713999_48714001del	GRCh37
NC_000015.8:g.46501291_46501293del	NCBI36
NG_008805.2:g.228985_228987del , LRG_778:g.228985_228987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-118_*379-116del	ENSP00000453958.2:n.*379-118_*379-116del
ENST00000674301.2:c.*1084-118_*1084-116del	ENSP00000501333.2:n.*1084-118_*1084-116del
ENST00000682170.1:n.1752-118_1752-116del
ENST00000682767.1:n.868-118_868-116del
ENST00000316623.10:c.7571-118_7571-116del MANE Select	ENSP00000325527.5:n.7571-118_7571-116del
ENST00000674301.1:c.2737-118_2737-116del	ENSP00000501333.1:n.2737-118_2737-116del
ENST00000316623.9:c.7571-118_7571-116del	ENSP00000325527.5:n.7571-118_7571-116del
ENST00000559133.5:c.2940-118_2940-116del
NM_000138.4:c.7571-118_7571-116del , LRG_778t1:c.7571-118_7571-116del	NP_000129.3:n.7571-118_7571-116del
NM_000138.5:c.7571-118_7571-116del MANE Select	NP_000129.3:n.7571-118_7571-116del