Canonical Allele Identifier: CA2175488083

Gene: FBN1

Linked Data

• dbSNP Id: rs2042874123
• gnomAD v4: 15-48412744-C-CCTTGGCCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412744_48412745insCTTGGCCTA , CM000677.2:g.48412744_48412745insCTTGGCCTA	GRCh38
NC_000015.9:g.48704941_48704942insCTTGGCCTA , CM000677.1:g.48704941_48704942insCTTGGCCTA	GRCh37
NC_000015.8:g.46492233_46492234insCTTGGCCTA	NCBI36
NG_008805.2:g.238044_238045insTAGGCCAAG , LRG_778:g.238044_238045insTAGGCCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-2_*860-1insTAGGCCAAG	ENSP00000453958.2:n.*860-2_*860-1insTAGGCCAAG
ENST00000674301.2:c.*1565-2_*1565-1insTAGGCCAAG	ENSP00000501333.2:n.*1565-2_*1565-1insTAGGCCAAG
ENST00000682158.1:n.1433-2_1433-1insTAGGCCAAG
ENST00000682170.1:n.2233-2_2233-1insTAGGCCAAG
ENST00000682767.1:n.1349-2_1349-1insTAGGCCAAG
ENST00000316623.10:c.8052-2_8052-1insTAGGCCAAG MANE Select	ENSP00000325527.5:n.8052-2_8052-1insTAGGCCAAG
ENST00000674301.1:c.3218-2_3218-1insTAGGCCAAG	ENSP00000501333.1:n.3218-2_3218-1insTAGGCCAAG
ENST00000316623.9:c.8052-2_8052-1insTAGGCCAAG	ENSP00000325527.5:n.8052-2_8052-1insTAGGCCAAG
ENST00000559133.5:c.3421-2_3421-1insTAGGCCAAG
ENST00000561429.1:n.307-2_307-1insTAGGCCAAG
NM_000138.4:c.8052-2_8052-1insTAGGCCAAG , LRG_778t1:c.8052-2_8052-1insTAGGCCAAG	NP_000129.3:n.8052-2_8052-1insTAGGCCAAG
NM_000138.5:c.8052-2_8052-1insTAGGCCAAG MANE Select	NP_000129.3:n.8052-2_8052-1insTAGGCCAAG