Canonical Allele Identifier: CA2544590455

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434391_48434392insT , CM000677.2:g.48434391_48434392insT	GRCh38
NC_000015.9:g.48726588_48726589insT , CM000677.1:g.48726588_48726589insT	GRCh37
NC_000015.8:g.46513880_46513881insT	NCBI36
NG_008805.2:g.216397_216398insA , LRG_778:g.216397_216398insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+202_6616+203insA	ENSP00000453958.2:n.6616+202_6616+203insA
ENST00000674301.2:c.6617-180_6617-179insA	ENSP00000501333.2:n.6617-180_6617-179insA
ENST00000682170.1:n.225+202_225+203insA
ENST00000316623.10:c.6616+202_6616+203insA MANE Select	ENSP00000325527.5:n.6616+202_6616+203insA
ENST00000674301.1:c.1616-180_1616-179insA	ENSP00000501333.1:n.1616-180_1616-179insA
ENST00000316623.9:c.6616+202_6616+203insA	ENSP00000325527.5:n.6616+202_6616+203insA
ENST00000537463.6:c.*2379+202_*2379+203insA	ENSP00000440294.2:n.*2379+202_*2379+203insA
ENST00000559133.5:c.1923+202_1923+203insA
NM_000138.4:c.6616+202_6616+203insA , LRG_778t1:c.6616+202_6616+203insA	NP_000129.3:n.6616+202_6616+203insA
NM_000138.5:c.6616+202_6616+203insA MANE Select	NP_000129.3:n.6616+202_6616+203insA