Canonical Allele Identifier: CA2628329597

Gene: FBN1

Linked Data

• gnomAD v4: 15-48421829-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421829_48421830insCT , CM000677.2:g.48421829_48421830insCT	GRCh38
NC_000015.9:g.48714026_48714027insCT , CM000677.1:g.48714026_48714027insCT	GRCh37
NC_000015.8:g.46501318_46501319insCT	NCBI36
NG_008805.2:g.228959_228960insAG , LRG_778:g.228959_228960insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*378+122_*378+123insAG	ENSP00000453958.2:n.*378+122_*378+123insAG
ENST00000674301.2:c.*1083+122_*1083+123insAG	ENSP00000501333.2:n.*1083+122_*1083+123insAG
ENST00000682170.1:n.1751+122_1751+123insAG
ENST00000682767.1:n.867+122_867+123insAG
ENST00000316623.10:c.7570+122_7570+123insAG MANE Select	ENSP00000325527.5:n.7570+122_7570+123insAG
ENST00000674301.1:c.2736+122_2736+123insAG	ENSP00000501333.1:n.2736+122_2736+123insAG
ENST00000316623.9:c.7570+122_7570+123insAG	ENSP00000325527.5:n.7570+122_7570+123insAG
ENST00000559133.5:c.2939+122_2939+123insAG
NM_000138.4:c.7570+122_7570+123insAG , LRG_778t1:c.7570+122_7570+123insAG	NP_000129.3:n.7570+122_7570+123insAG
NM_000138.5:c.7570+122_7570+123insAG MANE Select	NP_000129.3:n.7570+122_7570+123insAG