Canonical Allele Identifier: CA2175498996

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428734_48428738delinsCTGTT , CM000677.2:g.48428734_48428738delinsCTGTT	GRCh38
NC_000015.9:g.48720931_48720935delinsCTGTT , CM000677.1:g.48720931_48720935delinsCTGTT	GRCh37
NC_000015.8:g.46508223_46508227delinsCTGTT	NCBI36
NG_008805.2:g.222051_222055delinsAACAG , LRG_778:g.222051_222055delinsAACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-267_6872-263delinsAACAG	ENSP00000453958.2:n.6872-267_6872-263delinsAACAG
ENST00000674301.2:c.*323-267_*323-263delinsAACAG	ENSP00000501333.2:n.*323-267_*323-263delinsAACAG
ENST00000682170.1:n.481-267_481-263delinsAACAG
ENST00000316623.10:c.6872-267_6872-263delinsAACAG MANE Select	ENSP00000325527.5:n.6872-267_6872-263delinsAACAG
ENST00000674301.1:c.1976-267_1976-263delinsAACAG	ENSP00000501333.1:n.1976-267_1976-263delinsAACAG
ENST00000316623.9:c.6872-267_6872-263delinsAACAG	ENSP00000325527.5:n.6872-267_6872-263delinsAACAG
ENST00000559133.5:c.2179-267_2179-263delinsAACAG
ENST00000560720.1:n.159-267_159-263delinsAACAG
NM_000138.4:c.6872-267_6872-263delinsAACAG , LRG_778t1:c.6872-267_6872-263delinsAACAG	NP_000129.3:n.6872-267_6872-263delinsAACAG
NM_000138.5:c.6872-267_6872-263delinsAACAG MANE Select	NP_000129.3:n.6872-267_6872-263delinsAACAG