Canonical Allele Identifier: CA2175526325

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503762_48503763delinsAG , CM000677.2:g.48503762_48503763delinsAG	GRCh38
NC_000015.9:g.48795959_48795960delinsAG , CM000677.1:g.48795959_48795960delinsAG	GRCh37
NC_000015.8:g.46583251_46583252delinsAG	NCBI36
NG_008805.2:g.147026_147027delinsCT , LRG_778:g.147026_147027delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2113+24_2113+25delinsCT	ENSP00000453958.2:n.2113+24_2113+25delinsCT
ENST00000674301.2:c.2113+24_2113+25delinsCT	ENSP00000501333.2:n.2113+24_2113+25delinsCT
ENST00000684448.1:n.787+24_787+25delinsCT
ENST00000316623.10:c.2113+24_2113+25delinsCT MANE Select	ENSP00000325527.5:n.2113+24_2113+25delinsCT
ENST00000316623.9:c.2113+24_2113+25delinsCT	ENSP00000325527.5:n.2113+24_2113+25delinsCT
ENST00000537463.6:c.637-29113_637-29112delinsCT	ENSP00000440294.2:n.637-29113_637-29112delinsCT
NM_000138.4:c.2113+24_2113+25delinsCT , LRG_778t1:c.2113+24_2113+25delinsCT	NP_000129.3:n.2113+24_2113+25delinsCT
NM_000138.5:c.2113+24_2113+25delinsCT MANE Select	NP_000129.3:n.2113+24_2113+25delinsCT