Canonical Allele Identifier: CA2628331997

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428568-C-CTCCTTCCCTCCCTTTGTTCCTTTCTCCTTTCCTTCCTCCCTTCCCTCCCTCTCACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428579_48428635dup , CM000677.2:g.48428579_48428635dup	GRCh38
NC_000015.9:g.48720776_48720832dup , CM000677.1:g.48720776_48720832dup	GRCh37
NC_000015.8:g.46508068_46508124dup	NCBI36
NG_008805.2:g.222164_222220dup , LRG_778:g.222164_222220dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-154_6872-98dup	ENSP00000453958.2:n.6872-154_6872-98dup
ENST00000674301.2:c.*323-154_*323-98dup	ENSP00000501333.2:n.*323-154_*323-98dup
ENST00000682170.1:n.481-154_481-98dup
ENST00000316623.10:c.6872-154_6872-98dup MANE Select	ENSP00000325527.5:n.6872-154_6872-98dup
ENST00000674301.1:c.1976-154_1976-98dup	ENSP00000501333.1:n.1976-154_1976-98dup
ENST00000316623.9:c.6872-154_6872-98dup	ENSP00000325527.5:n.6872-154_6872-98dup
ENST00000559133.5:c.2179-154_2179-98dup
ENST00000560720.1:n.159-154_159-98dup
NM_000138.4:c.6872-154_6872-98dup , LRG_778t1:c.6872-154_6872-98dup	NP_000129.3:n.6872-154_6872-98dup
NM_000138.5:c.6872-154_6872-98dup MANE Select	NP_000129.3:n.6872-154_6872-98dup