Canonical Allele Identifier: CA2175498872

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428647_48428648delinsTC , CM000677.2:g.48428647_48428648delinsTC	GRCh38
NC_000015.9:g.48720844_48720845delinsTC , CM000677.1:g.48720844_48720845delinsTC	GRCh37
NC_000015.8:g.46508136_46508137delinsTC	NCBI36
NG_008805.2:g.222141_222142delinsGA , LRG_778:g.222141_222142delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-177_6872-176delinsGA	ENSP00000453958.2:n.6872-177_6872-176delinsGA
ENST00000674301.2:c.*323-177_*323-176delinsGA	ENSP00000501333.2:n.*323-177_*323-176delinsGA
ENST00000682170.1:n.481-177_481-176delinsGA
ENST00000316623.10:c.6872-177_6872-176delinsGA MANE Select	ENSP00000325527.5:n.6872-177_6872-176delinsGA
ENST00000674301.1:c.1976-177_1976-176delinsGA	ENSP00000501333.1:n.1976-177_1976-176delinsGA
ENST00000316623.9:c.6872-177_6872-176delinsGA	ENSP00000325527.5:n.6872-177_6872-176delinsGA
ENST00000559133.5:c.2179-177_2179-176delinsGA
ENST00000560720.1:n.159-177_159-176delinsGA
NM_000138.4:c.6872-177_6872-176delinsGA , LRG_778t1:c.6872-177_6872-176delinsGA	NP_000129.3:n.6872-177_6872-176delinsGA
NM_000138.5:c.6872-177_6872-176delinsGA MANE Select	NP_000129.3:n.6872-177_6872-176delinsGA