Canonical Allele Identifier: CA2175573627

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48610999_48611003delinsCTAAA , CM000677.2:g.48610999_48611003delinsCTAAA	GRCh38
NC_000015.9:g.48903196_48903200delinsCTAAA , CM000677.1:g.48903196_48903200delinsCTAAA	GRCh37
NC_000015.8:g.46690488_46690492delinsCTAAA	NCBI36
NG_008805.2:g.39786_39790delinsTTTAG , LRG_778:g.39786_39790delinsTTTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.248-177_248-173delinsTTTAG	ENSP00000453958.2:n.248-177_248-173delinsTTTAG
ENST00000674301.2:c.248-177_248-173delinsTTTAG	ENSP00000501333.2:n.248-177_248-173delinsTTTAG
ENST00000316623.10:c.248-177_248-173delinsTTTAG MANE Select	ENSP00000325527.5:n.248-177_248-173delinsTTTAG
ENST00000316623.9:c.248-177_248-173delinsTTTAG	ENSP00000325527.5:n.248-177_248-173delinsTTTAG
ENST00000537463.6:c.248-177_248-173delinsTTTAG	ENSP00000440294.2:n.248-177_248-173delinsTTTAG
NM_000138.4:c.248-177_248-173delinsTTTAG , LRG_778t1:c.248-177_248-173delinsTTTAG	NP_000129.3:n.248-177_248-173delinsTTTAG
NM_000138.5:c.248-177_248-173delinsTTTAG MANE Select	NP_000129.3:n.248-177_248-173delinsTTTAG