Canonical Allele Identifier: CA2175492090

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425305_48425306delinsCA , CM000677.2:g.48425305_48425306delinsCA	GRCh38
NC_000015.9:g.48717502_48717503delinsCA , CM000677.1:g.48717502_48717503delinsCA	GRCh37
NC_000015.8:g.46504794_46504795delinsCA	NCBI36
NG_008805.2:g.225483_225484delinsTG , LRG_778:g.225483_225484delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*261+63_*261+64delinsTG	ENSP00000453958.2:n.*261+63_*261+64delinsTG
ENST00000674301.2:c.*966+63_*966+64delinsTG	ENSP00000501333.2:n.*966+63_*966+64delinsTG
ENST00000682170.1:n.1634+63_1634+64delinsTG
ENST00000682767.1:n.750+63_750+64delinsTG
ENST00000316623.10:c.7453+63_7453+64delinsTG MANE Select	ENSP00000325527.5:n.7453+63_7453+64delinsTG
ENST00000674301.1:c.2619+63_2619+64delinsTG	ENSP00000501333.1:n.2619+63_2619+64delinsTG
ENST00000316623.9:c.7453+63_7453+64delinsTG	ENSP00000325527.5:n.7453+63_7453+64delinsTG
ENST00000559133.5:c.2822+63_2822+64delinsTG
NM_000138.4:c.7453+63_7453+64delinsTG , LRG_778t1:c.7453+63_7453+64delinsTG	NP_000129.3:n.7453+63_7453+64delinsTG
NM_000138.5:c.7453+63_7453+64delinsTG MANE Select	NP_000129.3:n.7453+63_7453+64delinsTG