Canonical Allele Identifier: CA2628334803

Gene: FBN1

Linked Data

• gnomAD v4: 15-48492653-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492656_48492657del , CM000677.2:g.48492656_48492657del	GRCh38
NC_000015.9:g.48784853_48784854del , CM000677.1:g.48784853_48784854del	GRCh37
NC_000015.8:g.46572145_46572146del	NCBI36
NG_008805.2:g.158134_158135del , LRG_778:g.158134_158135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2729-69_2729-68del	ENSP00000453958.2:n.2729-69_2729-68del
ENST00000674301.2:c.2729-69_2729-68del	ENSP00000501333.2:n.2729-69_2729-68del
ENST00000684448.1:n.1403-69_1403-68del
ENST00000316623.10:c.2729-69_2729-68del MANE Select	ENSP00000325527.5:n.2729-69_2729-68del
ENST00000316623.9:c.2729-69_2729-68del	ENSP00000325527.5:n.2729-69_2729-68del
ENST00000537463.6:c.637-18005_637-18004del	ENSP00000440294.2:n.637-18005_637-18004del
NM_000138.4:c.2729-69_2729-68del , LRG_778t1:c.2729-69_2729-68del	NP_000129.3:n.2729-69_2729-68del
NM_000138.5:c.2729-69_2729-68del MANE Select	NP_000129.3:n.2729-69_2729-68del