Canonical Allele Identifier: CA2175527242

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48504956_48504959delinsTACC , CM000677.2:g.48504956_48504959delinsTACC	GRCh38
NC_000015.9:g.48797153_48797156delinsTACC , CM000677.1:g.48797153_48797156delinsTACC	GRCh37
NC_000015.8:g.46584445_46584448delinsTACC	NCBI36
NG_008805.2:g.145830_145833delinsGGTA , LRG_778:g.145830_145833delinsGGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1960+66_1960+69delinsGGTA	ENSP00000453958.2:n.1960+66_1960+69delinsGGTA
ENST00000674301.2:c.1960+66_1960+69delinsGGTA	ENSP00000501333.2:n.1960+66_1960+69delinsGGTA
ENST00000684448.1:n.634+66_634+69delinsGGTA
ENST00000316623.10:c.1960+66_1960+69delinsGGTA MANE Select	ENSP00000325527.5:n.1960+66_1960+69delinsGGTA
ENST00000316623.9:c.1960+66_1960+69delinsGGTA	ENSP00000325527.5:n.1960+66_1960+69delinsGGTA
ENST00000537463.6:c.637-30309_637-30306delinsGGTA	ENSP00000440294.2:n.637-30309_637-30306delinsGGTA
NM_000138.4:c.1960+66_1960+69delinsGGTA , LRG_778t1:c.1960+66_1960+69delinsGGTA	NP_000129.3:n.1960+66_1960+69delinsGGTA
NM_000138.5:c.1960+66_1960+69delinsGGTA MANE Select	NP_000129.3:n.1960+66_1960+69delinsGGTA