Canonical Allele Identifier: CA2575717533

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48504997_48504999del , CM000677.2:g.48504997_48504999del	GRCh38
NC_000015.9:g.48797194_48797196del , CM000677.1:g.48797194_48797196del	GRCh37
NC_000015.8:g.46584486_46584488del	NCBI36
NG_008805.2:g.145791_145793del , LRG_778:g.145791_145793del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1960+27_1960+29del	ENSP00000453958.2:n.1960+27_1960+29del
ENST00000674301.2:c.1960+27_1960+29del	ENSP00000501333.2:n.1960+27_1960+29del
ENST00000684448.1:n.634+27_634+29del
ENST00000316623.10:c.1960+27_1960+29del MANE Select	ENSP00000325527.5:n.1960+27_1960+29del
ENST00000316623.9:c.1960+27_1960+29del	ENSP00000325527.5:n.1960+27_1960+29del
ENST00000537463.6:c.637-30348_637-30346del	ENSP00000440294.2:n.637-30348_637-30346de...
NM_000138.4:c.1960+27_1960+29del , LRG_778t1:c.1960+27_1960+29del	NP_000129.3:n.1960+27_1960+29del
NM_000138.5:c.1960+27_1960+29del MANE Select	NP_000129.3:n.1960+27_1960+29del