Canonical Allele Identifier: CA2175515093

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487441_48487442delinsCA , CM000677.2:g.48487441_48487442delinsCA	GRCh38
NC_000015.9:g.48779638_48779639delinsCA , CM000677.1:g.48779638_48779639delinsCA	GRCh37
NC_000015.8:g.46566930_46566931delinsCA	NCBI36
NG_008805.2:g.163347_163348delinsTG , LRG_778:g.163347_163348delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-5_3338-4delinsTG	ENSP00000453958.2:n.3338-5_3338-4delinsTG
ENST00000674301.2:c.3338-5_3338-4delinsTG	ENSP00000501333.2:n.3338-5_3338-4delinsTG
ENST00000684448.1:n.2012-5_2012-4delinsTG
ENST00000316623.10:c.3338-5_3338-4delinsTG MANE Select	ENSP00000325527.5:n.3338-5_3338-4delinsTG
ENST00000316623.9:c.3338-5_3338-4delinsTG	ENSP00000325527.5:n.3338-5_3338-4delinsTG
ENST00000537463.6:c.637-12792_637-12791delinsTG	ENSP00000440294.2:n.637-12792_637-12791delinsTG
NM_000138.4:c.3338-5_3338-4delinsTG , LRG_778t1:c.3338-5_3338-4delinsTG	NP_000129.3:n.3338-5_3338-4delinsTG
NM_000138.5:c.3338-5_3338-4delinsTG MANE Select	NP_000129.3:n.3338-5_3338-4delinsTG