Canonical Allele Identifier: CA2175509523

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483872_48483873delinsTG , CM000677.2:g.48483872_48483873delinsTG	GRCh38
NC_000015.9:g.48776069_48776070delinsTG , CM000677.1:g.48776069_48776070delinsTG	GRCh37
NC_000015.8:g.46563361_46563362delinsTG	NCBI36
NG_008805.2:g.166916_166917delinsCA , LRG_778:g.166916_166917delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3783_3784delinsCA	ENSP00000453958.2:p.Tyr1261=
ENST00000674301.2:c.3783_3784delinsCA	ENSP00000501333.2:p.Tyr1261=
ENST00000684448.1:n.2457_2458delinsCA
ENST00000316623.10:c.3783_3784delinsCA MANE Select	ENSP00000325527.5:p.Tyr1261=
ENST00000316623.9:c.3783_3784delinsCA	ENSP00000325527.5:p.Tyr1261=
ENST00000537463.6:c.637-9223_637-9222delinsCA	ENSP00000440294.2:n.637-9223_637-9222deli...
NM_000138.4:c.3783_3784delinsCA , LRG_778t1:c.3783_3784delinsCA	NP_000129.3:p.Tyr1261=
NM_000138.5:c.3783_3784delinsCA MANE Select	NP_000129.3:p.Tyr1261=