Canonical Allele Identifier: CA2175574406

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48612899_48612904delinsACTATC , CM000677.2:g.48612899_48612904delinsACTATC	GRCh38
NC_000015.9:g.48905096_48905101delinsACTATC , CM000677.1:g.48905096_48905101delinsACTATC	GRCh37
NC_000015.8:g.46692388_46692393delinsACTATC	NCBI36
NG_008805.2:g.37885_37890delinsGATAGT , LRG_778:g.37885_37890delinsGATAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.247+106_247+111delinsGATAGT	ENSP00000453958.2:n.247+106_247+111delinsGATAGT
ENST00000674301.2:c.247+106_247+111delinsGATAGT	ENSP00000501333.2:n.247+106_247+111delinsGATAGT
ENST00000316623.10:c.247+106_247+111delinsGATAGT MANE Select	ENSP00000325527.5:n.247+106_247+111delinsGATAGT
ENST00000316623.9:c.247+106_247+111delinsGATAGT	ENSP00000325527.5:n.247+106_247+111delinsGATAGT
ENST00000537463.6:c.247+106_247+111delinsGATAGT	ENSP00000440294.2:n.247+106_247+111delinsGATAGT
NM_000138.4:c.247+106_247+111delinsGATAGT , LRG_778t1:c.247+106_247+111delinsGATAGT	NP_000129.3:n.247+106_247+111delinsGATAGT
NM_000138.5:c.247+106_247+111delinsGATAGT MANE Select	NP_000129.3:n.247+106_247+111delinsGATAGT