Canonical Allele Identifier: CA2175518206

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467966_48468010delinsAGGAGTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCTTT , CM000677.2:g.48467966_48468010delinsAGGAGTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCTTT	GRCh38
NC_000015.9:g.48760163_48760207delinsAGGAGTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCTTT , CM000677.1:g.48760163_48760207delinsAGGAGTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCTTT	GRCh37
NC_000015.8:g.46547455_46547499delinsAGGAGTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCTTT	NCBI36
NG_008805.2:g.182779_182823delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT , LRG_778:g.182779_182823delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4675_4719delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT	ENSP00000453958.2:p.Lys1559=
ENST00000674301.2:c.4675_4719delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT	ENSP00000501333.2:p.Lys1559=
ENST00000684448.1:n.3349_3393delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT
ENST00000316623.10:c.4675_4719delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT MANE Select	ENSP00000325527.5:p.Lys1559=
ENST00000316623.9:c.4675_4719delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT	ENSP00000325527.5:p.Lys1559=
ENST00000537463.6:c.*438_*482delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT	ENSP00000440294.2:n.*438_*482delinsAAAGCTTCCTGCTGCTGTTCTCTGGG...
NM_000138.4:c.4675_4719delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT , LRG_778t1:c.4675_4719delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT	NP_000129.3:p.Lys1559=
NM_000138.5:c.4675_4719delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT MANE Select	NP_000129.3:p.Lys1559=