Canonical Allele Identifier: CA2175521519

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490019_48490020delinsCA , CM000677.2:g.48490019_48490020delinsCA	GRCh38
NC_000015.9:g.48782216_48782217delinsCA , CM000677.1:g.48782216_48782217delinsCA	GRCh37
NC_000015.8:g.46569508_46569509delinsCA	NCBI36
NG_008805.2:g.160769_160770delinsTG , LRG_778:g.160769_160770delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2913_2914delinsTG	ENSP00000453958.2:p.Ile971=
ENST00000674301.2:c.2913_2914delinsTG	ENSP00000501333.2:p.Ile971=
ENST00000684448.1:n.1587_1588delinsTG
ENST00000316623.10:c.2913_2914delinsTG MANE Select	ENSP00000325527.5:p.Ile971=
ENST00000316623.9:c.2913_2914delinsTG	ENSP00000325527.5:p.Ile971=
ENST00000537463.6:c.637-15370_637-15369delinsTG	ENSP00000440294.2:n.637-15370_637-15369delinsTG
NM_000138.4:c.2913_2914delinsTG , LRG_778t1:c.2913_2914delinsTG	NP_000129.3:p.Ile971=
NM_000138.5:c.2913_2914delinsTG MANE Select	NP_000129.3:p.Ile971=