Canonical Allele Identifier: CA2804070414

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428504_48428505insCCAAACACACCCAACAC , CM000677.2:g.48428504_48428505insCCAAACACACCCAACAC	GRCh38
NC_000015.9:g.48720701_48720702insCCAAACACACCCAACAC , CM000677.1:g.48720701_48720702insCCAAACACACCCAACAC	GRCh37
NC_000015.8:g.46507993_46507994insCCAAACACACCCAACAC	NCBI36
NG_008805.2:g.222284_222285insGTGTTGGGTGTGTTTGG , LRG_778:g.222284_222285insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-34_6872-33insGTGTTGGGTGTGTTTGG	ENSP00000453958.2:n.6872-34_6872-33insGTGTTGGGTGTGTTTGG
ENST00000674301.2:c.*323-34_*323-33insGTGTTGGGTGTGTTTGG	ENSP00000501333.2:n.*323-34_*323-33insGTGTTGGGTGTGTTTGG
ENST00000682170.1:n.481-34_481-33insGTGTTGGGTGTGTTTGG
ENST00000682767.1:n.73_74insGTGTTGGGTGTGTTTGG
ENST00000316623.10:c.6872-34_6872-33insGTGTTGGGTGTGTTTGG MANE Select	ENSP00000325527.5:n.6872-34_6872-33insGTGTTGGGTGTGTTTGG
ENST00000674301.1:c.1976-34_1976-33insGTGTTGGGTGTGTTTGG	ENSP00000501333.1:n.1976-34_1976-33insGTGTTGGGTGTGTTTGG
ENST00000316623.9:c.6872-34_6872-33insGTGTTGGGTGTGTTTGG	ENSP00000325527.5:n.6872-34_6872-33insGTGTTGGGTGTGTTTGG
ENST00000559133.5:c.2179-34_2179-33insGTGTTGGGTGTGTTTGG
ENST00000560720.1:n.159-34_159-33insGTGTTGGGTGTGTTTGG
NM_000138.4:c.6872-34_6872-33insGTGTTGGGTGTGTTTGG , LRG_778t1:c.6872-34_6872-33insGTGTTGGGTGTGTTTGG	NP_000129.3:n.6872-34_6872-33insGTGTTGGGTGTGTTTGG
NM_000138.5:c.6872-34_6872-33insGTGTTGGGTGTGTTTGG MANE Select	NP_000129.3:n.6872-34_6872-33insGTGTTGGGTGTGTTTGG