Canonical Allele Identifier: CA2175463233

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421543_48421544delinsGA , CM000677.2:g.48421543_48421544delinsGA	GRCh38
NC_000015.9:g.48713740_48713741delinsGA , CM000677.1:g.48713740_48713741delinsGA	GRCh37
NC_000015.8:g.46501032_46501033delinsGA	NCBI36
NG_008805.2:g.229245_229246delinsTC , LRG_778:g.229245_229246delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*507+14_*507+15delinsTC	ENSP00000453958.2:n.*507+14_*507+15delins...
ENST00000674301.2:c.*1212+14_*1212+15delinsTC	ENSP00000501333.2:n.*1212+14_*1212+15deli...
ENST00000682170.1:n.1880+14_1880+15delinsTC
ENST00000682767.1:n.996+14_996+15delinsTC
ENST00000316623.10:c.7699+14_7699+15delinsTC MANE Select	ENSP00000325527.5:n.7699+14_7699+15delins...
ENST00000674301.1:c.2865+14_2865+15delinsTC	ENSP00000501333.1:n.2865+14_2865+15delins...
ENST00000316623.9:c.7699+14_7699+15delinsTC	ENSP00000325527.5:n.7699+14_7699+15delins...
ENST00000559133.5:c.3068+14_3068+15delinsTC
NM_000138.4:c.7699+14_7699+15delinsTC , LRG_778t1:c.7699+14_7699+15delinsTC	NP_000129.3:n.7699+14_7699+15delinsTC
NM_000138.5:c.7699+14_7699+15delinsTC MANE Select	NP_000129.3:n.7699+14_7699+15delinsTC