Canonical Allele Identifier: CA2559879915

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487220_48487221insGTGA , CM000677.2:g.48487220_48487221insGTGA	GRCh38
NC_000015.9:g.48779417_48779418insGTGA , CM000677.1:g.48779417_48779418insGTGA	GRCh37
NC_000015.8:g.46566709_46566710insGTGA	NCBI36
NG_008805.2:g.163570_163571insACTC , LRG_778:g.163570_163571insACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3464-19_3464-18insACTC	ENSP00000453958.2:n.3464-19_3464-18insACTC
ENST00000674301.2:c.3464-19_3464-18insACTC	ENSP00000501333.2:n.3464-19_3464-18insACTC
ENST00000684448.1:n.2138-19_2138-18insACTC
ENST00000316623.10:c.3464-19_3464-18insACTC MANE Select	ENSP00000325527.5:n.3464-19_3464-18insACTC
ENST00000316623.9:c.3464-19_3464-18insACTC	ENSP00000325527.5:n.3464-19_3464-18insACTC
ENST00000537463.6:c.637-12569_637-12568insACTC	ENSP00000440294.2:n.637-12569_637-12568insACTC
NM_000138.4:c.3464-19_3464-18insACTC , LRG_778t1:c.3464-19_3464-18insACTC	NP_000129.3:n.3464-19_3464-18insACTC
NM_000138.5:c.3464-19_3464-18insACTC MANE Select	NP_000129.3:n.3464-19_3464-18insACTC