Canonical Allele Identifier: CA2175511828

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444490_48444501delinsTCCAGTGGACAC , CM000677.2:g.48444490_48444501delinsTCCAGTGGACAC	GRCh38
NC_000015.9:g.48736687_48736698delinsTCCAGTGGACAC , CM000677.1:g.48736687_48736698delinsTCCAGTGGACAC	GRCh37
NC_000015.8:g.46523979_46523990delinsTCCAGTGGACAC	NCBI36
NG_008805.2:g.206288_206299delinsGTGTCCACTGGA , LRG_778:g.206288_206299delinsGTGTCCACTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6037+40_6037+51delinsGTGTCCACTGGA	ENSP00000453958.2:n.6037+40_6037+51delinsGTGTCCACTGGA
ENST00000674301.2:c.6037+40_6037+51delinsGTGTCCACTGGA	ENSP00000501333.2:n.6037+40_6037+51delinsGTGTCCACTGGA
ENST00000684448.1:n.4751_4762delinsGTGTCCACTGGA
ENST00000316623.10:c.6037+40_6037+51delinsGTGTCCACTGGA MANE Select	ENSP00000325527.5:n.6037+40_6037+51delinsGTGTCCACTGGA
ENST00000674301.1:c.1036+40_1036+51delinsGTGTCCACTGGA	ENSP00000501333.1:n.1036+40_1036+51delinsGTGTCCACTGGA
ENST00000316623.9:c.6037+40_6037+51delinsGTGTCCACTGGA	ENSP00000325527.5:n.6037+40_6037+51delinsGTGTCCACTGGA
ENST00000537463.6:c.*1800+40_*1800+51delinsGTGTCCACTGGA	ENSP00000440294.2:n.*1800+40_*1800+51delinsGTGTCCACTGGA
ENST00000559133.5:c.1344+40_1344+51delinsGTGTCCACTGGA
ENST00000560820.1:n.157+40_157+51delinsGTGTCCACTGGA
NM_000138.4:c.6037+40_6037+51delinsGTGTCCACTGGA , LRG_778t1:c.6037+40_6037+51delinsGTGTCCACTGGA	NP_000129.3:n.6037+40_6037+51delinsGTGTCCACTGGA
NM_000138.5:c.6037+40_6037+51delinsGTGTCCACTGGA MANE Select	NP_000129.3:n.6037+40_6037+51delinsGTGTCCACTGGA