Canonical Allele Identifier: CA2175463979

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421797_48421799delinsACG , CM000677.2:g.48421797_48421799delinsACG	GRCh38
NC_000015.9:g.48713994_48713996delinsACG , CM000677.1:g.48713994_48713996delinsACG	GRCh37
NC_000015.8:g.46501286_46501288delinsACG	NCBI36
NG_008805.2:g.228990_228992delinsCGT , LRG_778:g.228990_228992delinsCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-113_*379-111delinsCGT	ENSP00000453958.2:n.*379-113_*379-111delinsCGT
ENST00000674301.2:c.*1084-113_*1084-111delinsCGT	ENSP00000501333.2:n.*1084-113_*1084-111delinsCGT
ENST00000682170.1:n.1752-113_1752-111delinsCGT
ENST00000682767.1:n.868-113_868-111delinsCGT
ENST00000316623.10:c.7571-113_7571-111delinsCGT MANE Select	ENSP00000325527.5:n.7571-113_7571-111delinsCGT
ENST00000674301.1:c.2737-113_2737-111delinsCGT	ENSP00000501333.1:n.2737-113_2737-111delinsCGT
ENST00000316623.9:c.7571-113_7571-111delinsCGT	ENSP00000325527.5:n.7571-113_7571-111delinsCGT
ENST00000559133.5:c.2940-113_2940-111delinsCGT
NM_000138.4:c.7571-113_7571-111delinsCGT , LRG_778t1:c.7571-113_7571-111delinsCGT	NP_000129.3:n.7571-113_7571-111delinsCGT
NM_000138.5:c.7571-113_7571-111delinsCGT MANE Select	NP_000129.3:n.7571-113_7571-111delinsCGT