Canonical Allele Identifier: CA2175495577

Gene: FBN1

Linked Data

• dbSNP Id: rs2043163998

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446847_48446861del , CM000677.2:g.48446847_48446861del	GRCh38
NC_000015.9:g.48739044_48739058del , CM000677.1:g.48739044_48739058del	GRCh37
NC_000015.8:g.46526336_46526350del	NCBI36
NG_008805.2:g.203931_203945del , LRG_778:g.203931_203945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5672-36_5672-22del	ENSP00000453958.2:n.5672-36_5672-22del
ENST00000674301.2:c.5672-36_5672-22del	ENSP00000501333.2:n.5672-36_5672-22del
ENST00000684448.1:n.4346-36_4346-22del
ENST00000316623.10:c.5672-36_5672-22del MANE Select	ENSP00000325527.5:n.5672-36_5672-22del
ENST00000674301.1:c.671-36_671-22del	ENSP00000501333.1:n.671-36_671-22del
ENST00000316623.9:c.5672-36_5672-22del	ENSP00000325527.5:n.5672-36_5672-22del
ENST00000537463.6:c.*1435-36_*1435-22del	ENSP00000440294.2:n.*1435-36_*1435-22del
ENST00000559133.5:c.979-36_979-22del
NM_000138.4:c.5672-36_5672-22del , LRG_778t1:c.5672-36_5672-22del	NP_000129.3:n.5672-36_5672-22del
NM_000138.5:c.5672-36_5672-22del MANE Select	NP_000129.3:n.5672-36_5672-22del