Canonical Allele Identifier: CA016931

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48537645_48537647delinsACA , CM000677.2:g.48537645_48537647delinsACA	GRCh38
NC_000015.9:g.48829842_48829844delinsACA , CM000677.1:g.48829842_48829844delinsACA	GRCh37
NC_000015.8:g.46617134_46617136delinsACA	NCBI36
NG_008805.2:g.113142_113144delinsTGT , LRG_778:g.113142_113144delinsTGT

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.700_702delinsTGT MANE Select	NP_000129.3:p.Gly234Cys
ENST00000316623.10:c.700_702delinsTGT MANE Select	ENSP00000325527.5:p.Gly234Cys
NM_000138.4:c.700_702delinsTGT , LRG_778t1:c.700_702delinsTGT	NP_000129.3:p.Gly234Cys
ENST00000316623.9:c.700_702delinsTGT	ENSP00000325527.5:p.Gly234Cys
ENST00000537463.6:c.636+64_636+66delinsTGT	ENSP00000440294.2:n.636+64_636+66delinsTGT
ENST00000559133.6:c.700_702delinsTGT	ENSP00000453958.2:p.Gly234Cys
ENST00000674301.2:c.700_702delinsTGT	ENSP00000501333.2:p.Gly234Cys