Canonical Allele Identifier: CA2175492297

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445380_48445395delinsACAGGTCCTCCCATCT , CM000677.2:g.48445380_48445395delinsACAGGTCCTCCCATCT	GRCh38
NC_000015.9:g.48737577_48737592delinsACAGGTCCTCCCATCT , CM000677.1:g.48737577_48737592delinsACAGGTCCTCCCATCT	GRCh37
NC_000015.8:g.46524869_46524884delinsACAGGTCCTCCCATCT	NCBI36
NG_008805.2:g.205394_205409delinsAGATGGGAGGACCTGT , LRG_778:g.205394_205409delinsAGATGGGAGGACCTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5898_5913delinsAGATGGGAGGACCTGT	ENSP00000453958.2:p.Pro1966=
ENST00000674301.2:c.5898_5913delinsAGATGGGAGGACCTGT	ENSP00000501333.2:p.Pro1966=
ENST00000684448.1:n.4572_4587delinsAGATGGGAGGACCTGT
ENST00000316623.10:c.5898_5913delinsAGATGGGAGGACCTGT MANE Select	ENSP00000325527.5:p.Pro1966=
ENST00000674301.1:c.897_912delinsAGATGGGAGGACCTGT	ENSP00000501333.1:p.Pro299=
ENST00000316623.9:c.5898_5913delinsAGATGGGAGGACCTGT	ENSP00000325527.5:p.Pro1966=
ENST00000537463.6:c.*1661_*1676delinsAGATGGGAGGACCTGT	ENSP00000440294.2:n.*1661_*1676delinsAGAT...
ENST00000559133.5:c.1205_1220delinsAGATGGGAGGACCTGT
ENST00000560820.1:n.18_33delinsAGATGGGAGGACCTGT
NM_000138.4:c.5898_5913delinsAGATGGGAGGACCTGT , LRG_778t1:c.5898_5913delinsAGATGGGAGGACCTGT	NP_000129.3:p.Pro1966=
NM_000138.5:c.5898_5913delinsAGATGGGAGGACCTGT MANE Select	NP_000129.3:p.Pro1966=