Canonical Allele Identifier: CA2175521205

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489835_48489840delinsAAACGT , CM000677.2:g.48489835_48489840delinsAAACGT	GRCh38
NC_000015.9:g.48782032_48782037delinsAAACGT , CM000677.1:g.48782032_48782037delinsAAACGT	GRCh37
NC_000015.8:g.46569324_46569329delinsAAACGT	NCBI36
NG_008805.2:g.160949_160954delinsACGTTT , LRG_778:g.160949_160954delinsACGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3082+11_3082+16delinsACGTTT	ENSP00000453958.2:n.3082+11_3082+16delinsACGTTT
ENST00000674301.2:c.3082+11_3082+16delinsACGTTT	ENSP00000501333.2:n.3082+11_3082+16delinsACGTTT
ENST00000684448.1:n.1756+11_1756+16delinsACGTTT
ENST00000316623.10:c.3082+11_3082+16delinsACGTTT MANE Select	ENSP00000325527.5:n.3082+11_3082+16delinsACGTTT
ENST00000316623.9:c.3082+11_3082+16delinsACGTTT	ENSP00000325527.5:n.3082+11_3082+16delinsACGTTT
ENST00000537463.6:c.637-15190_637-15185delinsACGTTT	ENSP00000440294.2:n.637-15190_637-15185delinsACGTTT
NM_000138.4:c.3082+11_3082+16delinsACGTTT , LRG_778t1:c.3082+11_3082+16delinsACGTTT	NP_000129.3:n.3082+11_3082+16delinsACGTTT
NM_000138.5:c.3082+11_3082+16delinsACGTTT MANE Select	NP_000129.3:n.3082+11_3082+16delinsACGTTT