Canonical Allele Identifier: CA2628331932

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428548-G-GTTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428558_48428561dup , CM000677.2:g.48428558_48428561dup	GRCh38
NC_000015.9:g.48720755_48720758dup , CM000677.1:g.48720755_48720758dup	GRCh37
NC_000015.8:g.46508047_46508050dup	NCBI36
NG_008805.2:g.222237_222240dup , LRG_778:g.222237_222240dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-81_6872-78dup	ENSP00000453958.2:n.6872-81_6872-78dup
ENST00000674301.2:c.*323-81_*323-78dup	ENSP00000501333.2:n.*323-81_*323-78dup
ENST00000682170.1:n.481-81_481-78dup
ENST00000682767.1:n.26_29dup
ENST00000316623.10:c.6872-81_6872-78dup MANE Select	ENSP00000325527.5:n.6872-81_6872-78dup
ENST00000674301.1:c.1976-81_1976-78dup	ENSP00000501333.1:n.1976-81_1976-78dup
ENST00000316623.9:c.6872-81_6872-78dup	ENSP00000325527.5:n.6872-81_6872-78dup
ENST00000559133.5:c.2179-81_2179-78dup
ENST00000560720.1:n.159-81_159-78dup
NM_000138.4:c.6872-81_6872-78dup , LRG_778t1:c.6872-81_6872-78dup	NP_000129.3:n.6872-81_6872-78dup
NM_000138.5:c.6872-81_6872-78dup MANE Select	NP_000129.3:n.6872-81_6872-78dup