Canonical Allele Identifier: CA2175498607

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428535_48428538delinsAGCT , CM000677.2:g.48428535_48428538delinsAGCT	GRCh38
NC_000015.9:g.48720732_48720735delinsAGCT , CM000677.1:g.48720732_48720735delinsAGCT	GRCh37
NC_000015.8:g.46508024_46508027delinsAGCT	NCBI36
NG_008805.2:g.222251_222254delinsAGCT , LRG_778:g.222251_222254delinsAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-67_6872-64delinsAGCT	ENSP00000453958.2:n.6872-67_6872-64delinsAGCT
ENST00000674301.2:c.*323-67_*323-64delinsAGCT	ENSP00000501333.2:n.*323-67_*323-64delinsAGCT
ENST00000682170.1:n.481-67_481-64delinsAGCT
ENST00000682767.1:n.40_43delinsAGCT
ENST00000316623.10:c.6872-67_6872-64delinsAGCT MANE Select	ENSP00000325527.5:n.6872-67_6872-64delinsAGCT
ENST00000674301.1:c.1976-67_1976-64delinsAGCT	ENSP00000501333.1:n.1976-67_1976-64delinsAGCT
ENST00000316623.9:c.6872-67_6872-64delinsAGCT	ENSP00000325527.5:n.6872-67_6872-64delinsAGCT
ENST00000559133.5:c.2179-67_2179-64delinsAGCT
ENST00000560720.1:n.159-67_159-64delinsAGCT
NM_000138.4:c.6872-67_6872-64delinsAGCT , LRG_778t1:c.6872-67_6872-64delinsAGCT	NP_000129.3:n.6872-67_6872-64delinsAGCT
NM_000138.5:c.6872-67_6872-64delinsAGCT MANE Select	NP_000129.3:n.6872-67_6872-64delinsAGCT