Canonical Allele Identifier: CA2175524528

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492683_48492684delinsTG , CM000677.2:g.48492683_48492684delinsTG	GRCh38
NC_000015.9:g.48784880_48784881delinsTG , CM000677.1:g.48784880_48784881delinsTG	GRCh37
NC_000015.8:g.46572172_46572173delinsTG	NCBI36
NG_008805.2:g.158105_158106delinsCA , LRG_778:g.158105_158106delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2729-98_2729-97delinsCA	ENSP00000453958.2:n.2729-98_2729-97delinsCA
ENST00000674301.2:c.2729-98_2729-97delinsCA	ENSP00000501333.2:n.2729-98_2729-97delinsCA
ENST00000684448.1:n.1403-98_1403-97delinsCA
ENST00000316623.10:c.2729-98_2729-97delinsCA MANE Select	ENSP00000325527.5:n.2729-98_2729-97delinsCA
ENST00000316623.9:c.2729-98_2729-97delinsCA	ENSP00000325527.5:n.2729-98_2729-97delinsCA
ENST00000537463.6:c.637-18034_637-18033delinsCA	ENSP00000440294.2:n.637-18034_637-18033delinsCA
NM_000138.4:c.2729-98_2729-97delinsCA , LRG_778t1:c.2729-98_2729-97delinsCA	NP_000129.3:n.2729-98_2729-97delinsCA
NM_000138.5:c.2729-98_2729-97delinsCA MANE Select	NP_000129.3:n.2729-98_2729-97delinsCA