Canonical Allele Identifier: CA2175492780

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445475_48445476delinsTC , CM000677.2:g.48445475_48445476delinsTC	GRCh38
NC_000015.9:g.48737672_48737673delinsTC , CM000677.1:g.48737672_48737673delinsTC	GRCh37
NC_000015.8:g.46524964_46524965delinsTC	NCBI36
NG_008805.2:g.205313_205314delinsGA , LRG_778:g.205313_205314delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5817_5818delinsGA	ENSP00000453958.2:p.Gly1939=
ENST00000674301.2:c.5817_5818delinsGA	ENSP00000501333.2:p.Gly1939=
ENST00000684448.1:n.4491_4492delinsGA
ENST00000316623.10:c.5817_5818delinsGA MANE Select	ENSP00000325527.5:p.Gly1939=
ENST00000674301.1:c.816_817delinsGA	ENSP00000501333.1:p.Gly272=
ENST00000316623.9:c.5817_5818delinsGA	ENSP00000325527.5:p.Gly1939=
ENST00000537463.6:c.*1580_*1581delinsGA	ENSP00000440294.2:n.*1580_*1581delinsGA
ENST00000559133.5:c.1124_1125delinsGA
NM_000138.4:c.5817_5818delinsGA , LRG_778t1:c.5817_5818delinsGA	NP_000129.3:p.Gly1939=
NM_000138.5:c.5817_5818delinsGA MANE Select	NP_000129.3:p.Gly1939=