Canonical Allele Identifier: CA2804071446

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487232_48487233insCACACCCAAC , CM000677.2:g.48487232_48487233insCACACCCAAC	GRCh38
NC_000015.9:g.48779429_48779430insCACACCCAAC , CM000677.1:g.48779429_48779430insCACACCCAAC	GRCh37
NC_000015.8:g.46566721_46566722insCACACCCAAC	NCBI36
NG_008805.2:g.163556_163557insGTTGGGTGTG , LRG_778:g.163556_163557insGTTGGGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3464-33_3464-32insGTTGGGTGTG	ENSP00000453958.2:n.3464-33_3464-32insGTTGGGTGTG
ENST00000674301.2:c.3464-33_3464-32insGTTGGGTGTG	ENSP00000501333.2:n.3464-33_3464-32insGTTGGGTGTG
ENST00000684448.1:n.2138-33_2138-32insGTTGGGTGTG
ENST00000316623.10:c.3464-33_3464-32insGTTGGGTGTG MANE Select	ENSP00000325527.5:n.3464-33_3464-32insGTTGGGTGTG
ENST00000316623.9:c.3464-33_3464-32insGTTGGGTGTG	ENSP00000325527.5:n.3464-33_3464-32insGTTGGGTGTG
ENST00000537463.6:c.637-12583_637-12582insGTTGGGTGTG	ENSP00000440294.2:n.637-12583_637-12582insGTTGGGTGTG
NM_000138.4:c.3464-33_3464-32insGTTGGGTGTG , LRG_778t1:c.3464-33_3464-32insGTTGGGTGTG	NP_000129.3:n.3464-33_3464-32insGTTGGGTGTG
NM_000138.5:c.3464-33_3464-32insGTTGGGTGTG MANE Select	NP_000129.3:n.3464-33_3464-32insGTTGGGTGTG