Canonical Allele Identifier: CA2175515196

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487503_48487504delinsTC , CM000677.2:g.48487503_48487504delinsTC	GRCh38
NC_000015.9:g.48779700_48779701delinsTC , CM000677.1:g.48779700_48779701delinsTC	GRCh37
NC_000015.8:g.46566992_46566993delinsTC	NCBI36
NG_008805.2:g.163285_163286delinsGA , LRG_778:g.163285_163286delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-67_3338-66delinsGA	ENSP00000453958.2:n.3338-67_3338-66delinsGA
ENST00000674301.2:c.3338-67_3338-66delinsGA	ENSP00000501333.2:n.3338-67_3338-66delinsGA
ENST00000684448.1:n.2012-67_2012-66delinsGA
ENST00000316623.10:c.3338-67_3338-66delinsGA MANE Select	ENSP00000325527.5:n.3338-67_3338-66delinsGA
ENST00000316623.9:c.3338-67_3338-66delinsGA	ENSP00000325527.5:n.3338-67_3338-66delinsGA
ENST00000537463.6:c.637-12854_637-12853delinsGA	ENSP00000440294.2:n.637-12854_637-12853delinsGA
NM_000138.4:c.3338-67_3338-66delinsGA , LRG_778t1:c.3338-67_3338-66delinsGA	NP_000129.3:n.3338-67_3338-66delinsGA
NM_000138.5:c.3338-67_3338-66delinsGA MANE Select	NP_000129.3:n.3338-67_3338-66delinsGA