Canonical Allele Identifier: CA2730869188

Gene: FBN1

Linked Data

• dbSNP Id: rs2141300747

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492732del , CM000677.2:g.48492732del	GRCh38
NC_000015.9:g.48784929del , CM000677.1:g.48784929del	GRCh37
NC_000015.8:g.46572221del	NCBI36
NG_008805.2:g.158057del , LRG_778:g.158057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2729-146del	ENSP00000453958.2:n.2729-146del
ENST00000674301.2:c.2729-146del	ENSP00000501333.2:n.2729-146del
ENST00000684448.1:n.1403-146del
ENST00000316623.10:c.2729-146del MANE Select	ENSP00000325527.5:n.2729-146del
ENST00000316623.9:c.2729-146del	ENSP00000325527.5:n.2729-146del
ENST00000537463.6:c.637-18082del	ENSP00000440294.2:n.637-18082del
NM_000138.4:c.2729-146del , LRG_778t1:c.2729-146del	NP_000129.3:n.2729-146del
NM_000138.5:c.2729-146del MANE Select	NP_000129.3:n.2729-146del