Canonical Allele Identifier: CA2740096593

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2945156
• ClinVar RCV Id: RCV003800810

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472634_48472635insAATG , CM000677.2:g.48472634_48472635insAATG	GRCh38
NC_000015.9:g.48764831_48764832insAATG , CM000677.1:g.48764831_48764832insAATG	GRCh37
NC_000015.8:g.46552123_46552124insAATG	NCBI36
NG_008805.2:g.178154_178155insCATT , LRG_778:g.178154_178155insCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4252_4253insCATT	ENSP00000453958.2:p.Gly1418AlafsTer14
ENST00000674301.2:c.4252_4253insCATT	ENSP00000501333.2:p.Gly1418AlafsTer14
ENST00000683268.1:n.219_220insCATT
ENST00000684448.1:n.2926_2927insCATT
ENST00000316623.10:c.4252_4253insCATT MANE Select	ENSP00000325527.5:p.Gly1418AlafsTer14
ENST00000316623.9:c.4252_4253insCATT	ENSP00000325527.5:p.Gly1418AlafsTer14
ENST00000537463.6:c.*15_*16insCATT	ENSP00000440294.2:n.*15_*16insCATT
NM_000138.4:c.4252_4253insCATT , LRG_778t1:c.4252_4253insCATT	NP_000129.3:p.Gly1418AlafsTer14
NM_000138.5:c.4252_4253insCATT MANE Select	NP_000129.3:p.Gly1418AlafsTer14