Canonical Allele Identifier: CA2175464010

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421805_48421806delinsCA , CM000677.2:g.48421805_48421806delinsCA	GRCh38
NC_000015.9:g.48714002_48714003delinsCA , CM000677.1:g.48714002_48714003delinsCA	GRCh37
NC_000015.8:g.46501294_46501295delinsCA	NCBI36
NG_008805.2:g.228983_228984delinsTG , LRG_778:g.228983_228984delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-120_*379-119delinsTG	ENSP00000453958.2:n.*379-120_*379-119delinsTG
ENST00000674301.2:c.*1084-120_*1084-119delinsTG	ENSP00000501333.2:n.*1084-120_*1084-119delinsTG
ENST00000682170.1:n.1752-120_1752-119delinsTG
ENST00000682767.1:n.868-120_868-119delinsTG
ENST00000316623.10:c.7571-120_7571-119delinsTG MANE Select	ENSP00000325527.5:n.7571-120_7571-119delinsTG
ENST00000674301.1:c.2737-120_2737-119delinsTG	ENSP00000501333.1:n.2737-120_2737-119delinsTG
ENST00000316623.9:c.7571-120_7571-119delinsTG	ENSP00000325527.5:n.7571-120_7571-119delinsTG
ENST00000559133.5:c.2940-120_2940-119delinsTG
NM_000138.4:c.7571-120_7571-119delinsTG , LRG_778t1:c.7571-120_7571-119delinsTG	NP_000129.3:n.7571-120_7571-119delinsTG
NM_000138.5:c.7571-120_7571-119delinsTG MANE Select	NP_000129.3:n.7571-120_7571-119delinsTG