Canonical Allele Identifier: CA2175509406

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483840_48483841delinsAG , CM000677.2:g.48483840_48483841delinsAG	GRCh38
NC_000015.9:g.48776037_48776038delinsAG , CM000677.1:g.48776037_48776038delinsAG	GRCh37
NC_000015.8:g.46563329_46563330delinsAG	NCBI36
NG_008805.2:g.166948_166949delinsCT , LRG_778:g.166948_166949delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3815_3816delinsCT	ENSP00000453958.2:p.Ser1272=
ENST00000674301.2:c.3815_3816delinsCT	ENSP00000501333.2:p.Ser1272=
ENST00000684448.1:n.2489_2490delinsCT
ENST00000316623.10:c.3815_3816delinsCT MANE Select	ENSP00000325527.5:p.Ser1272=
ENST00000316623.9:c.3815_3816delinsCT	ENSP00000325527.5:p.Ser1272=
ENST00000537463.6:c.637-9191_637-9190delinsCT	ENSP00000440294.2:n.637-9191_637-9190deli...
NM_000138.4:c.3815_3816delinsCT , LRG_778t1:c.3815_3816delinsCT	NP_000129.3:p.Ser1272=
NM_000138.5:c.3815_3816delinsCT MANE Select	NP_000129.3:p.Ser1272=