Canonical Allele Identifier: CA2175511829

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444490_48444491delinsTC , CM000677.2:g.48444490_48444491delinsTC	GRCh38
NC_000015.9:g.48736687_48736688delinsTC , CM000677.1:g.48736687_48736688delinsTC	GRCh37
NC_000015.8:g.46523979_46523980delinsTC	NCBI36
NG_008805.2:g.206298_206299delinsGA , LRG_778:g.206298_206299delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6037+50_6037+51delinsGA	ENSP00000453958.2:n.6037+50_6037+51delinsGA
ENST00000674301.2:c.6037+50_6037+51delinsGA	ENSP00000501333.2:n.6037+50_6037+51delinsGA
ENST00000684448.1:n.4761_4762delinsGA
ENST00000316623.10:c.6037+50_6037+51delinsGA MANE Select	ENSP00000325527.5:n.6037+50_6037+51delinsGA
ENST00000674301.1:c.1036+50_1036+51delinsGA	ENSP00000501333.1:n.1036+50_1036+51delinsGA
ENST00000316623.9:c.6037+50_6037+51delinsGA	ENSP00000325527.5:n.6037+50_6037+51delinsGA
ENST00000537463.6:c.*1800+50_*1800+51delinsGA	ENSP00000440294.2:n.*1800+50_*1800+51delinsGA
ENST00000559133.5:c.1344+50_1344+51delinsGA
ENST00000560820.1:n.157+50_157+51delinsGA
NM_000138.4:c.6037+50_6037+51delinsGA , LRG_778t1:c.6037+50_6037+51delinsGA	NP_000129.3:n.6037+50_6037+51delinsGA
NM_000138.5:c.6037+50_6037+51delinsGA MANE Select	NP_000129.3:n.6037+50_6037+51delinsGA