Canonical Allele Identifier: CA2628329555

Gene: FBN1

Linked Data

• gnomAD v4: 15-48421802-T-TCACATACATGTACAGGTGTGCTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421813_48421836dup , CM000677.2:g.48421813_48421836dup	GRCh38
NC_000015.9:g.48714010_48714033dup , CM000677.1:g.48714010_48714033dup	GRCh37
NC_000015.8:g.46501302_46501325dup	NCBI36
NG_008805.2:g.228963_228986dup , LRG_778:g.228963_228986dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*378+126_*379-117dup	ENSP00000453958.2:n.*378+126_*379-117dup
ENST00000674301.2:c.*1083+126_*1084-117dup	ENSP00000501333.2:n.*1083+126_*1084-117dup
ENST00000682170.1:n.1751+126_1752-117dup
ENST00000682767.1:n.867+126_868-117dup
ENST00000316623.10:c.7570+126_7571-117dup MANE Select	ENSP00000325527.5:n.7570+126_7571-117dup
ENST00000674301.1:c.2736+126_2737-117dup	ENSP00000501333.1:n.2736+126_2737-117dup
ENST00000316623.9:c.7570+126_7571-117dup	ENSP00000325527.5:n.7570+126_7571-117dup
ENST00000559133.5:c.2939+126_2940-117dup
NM_000138.4:c.7570+126_7571-117dup , LRG_778t1:c.7570+126_7571-117dup	NP_000129.3:n.7570+126_7571-117dup
NM_000138.5:c.7570+126_7571-117dup MANE Select	NP_000129.3:n.7570+126_7571-117dup