Canonical Allele Identifier: CA2628331961

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428560-CTCCCTCCCTCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428570_48428581del , CM000677.2:g.48428570_48428581del	GRCh38
NC_000015.9:g.48720767_48720778del , CM000677.1:g.48720767_48720778del	GRCh37
NC_000015.8:g.46508059_46508070del	NCBI36
NG_008805.2:g.222217_222228del , LRG_778:g.222217_222228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-101_6872-90del	ENSP00000453958.2:n.6872-101_6872-90del
ENST00000674301.2:c.*323-101_*323-90del	ENSP00000501333.2:n.*323-101_*323-90del
ENST00000682170.1:n.481-101_481-90del
ENST00000316623.10:c.6872-101_6872-90del MANE Select	ENSP00000325527.5:n.6872-101_6872-90del
ENST00000674301.1:c.1976-101_1976-90del	ENSP00000501333.1:n.1976-101_1976-90del
ENST00000316623.9:c.6872-101_6872-90del	ENSP00000325527.5:n.6872-101_6872-90del
ENST00000559133.5:c.2179-101_2179-90del
ENST00000560720.1:n.159-101_159-90del
NM_000138.4:c.6872-101_6872-90del , LRG_778t1:c.6872-101_6872-90del	NP_000129.3:n.6872-101_6872-90del
NM_000138.5:c.6872-101_6872-90del MANE Select	NP_000129.3:n.6872-101_6872-90del