Canonical Allele Identifier: CA2175512913

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445107_48445123delinsTATATATATATATACAC , CM000677.2:g.48445107_48445123delinsTATATATATATATACAC	GRCh38
NC_000015.9:g.48737304_48737320delinsTATATATATATATACAC , CM000677.1:g.48737304_48737320delinsTATATATATATATACAC	GRCh37
NC_000015.8:g.46524596_46524612delinsTATATATATATATACAC	NCBI36
NG_008805.2:g.205666_205682delinsGTGTATATATATATATA , LRG_778:g.205666_205682delinsGTGTATATATATATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+253_5917+269delinsGTGTATATATATATATA	ENSP00000453958.2:n.5917+253_5917+269delinsGTGTATATATATATATA
ENST00000674301.2:c.5917+253_5917+269delinsGTGTATATATATATATA	ENSP00000501333.2:n.5917+253_5917+269delinsGTGTATATATATATATA
ENST00000684448.1:n.4591+253_4591+269delinsGTGTATATATATATATA
ENST00000316623.10:c.5917+253_5917+269delinsGTGTATATATATATATA MANE Select	ENSP00000325527.5:n.5917+253_5917+269delinsGTGTATATATATATATA
ENST00000674301.1:c.916+253_916+269delinsGTGTATATATATATATA	ENSP00000501333.1:n.916+253_916+269delinsGTGTATATATATATATA
ENST00000316623.9:c.5917+253_5917+269delinsGTGTATATATATATATA	ENSP00000325527.5:n.5917+253_5917+269delinsGTGTATATATATATATA
ENST00000537463.6:c.*1680+253_*1680+269delinsGTGTATATATATATATA	ENSP00000440294.2:n.*1680+253_*1680+269delinsGTGTATATATATATAT...
ENST00000559133.5:c.1224+253_1224+269delinsGTGTATATATATATATA
ENST00000560820.1:n.37+253_37+269delinsGTGTATATATATATATA
NM_000138.4:c.5917+253_5917+269delinsGTGTATATATATATATA , LRG_778t1:c.5917+253_5917+269delinsGTGTATATATATATATA	NP_000129.3:n.5917+253_5917+269delinsGTGTATATATATATATA
NM_000138.5:c.5917+253_5917+269delinsGTGTATATATATATATA MANE Select	NP_000129.3:n.5917+253_5917+269delinsGTGTATATATATATATA