Canonical Allele Identifier: CA2175492136

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445342_48445343delinsAT , CM000677.2:g.48445342_48445343delinsAT	GRCh38
NC_000015.9:g.48737539_48737540delinsAT , CM000677.1:g.48737539_48737540delinsAT	GRCh37
NC_000015.8:g.46524831_46524832delinsAT	NCBI36
NG_008805.2:g.205446_205447delinsAT , LRG_778:g.205446_205447delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+33_5917+34delinsAT	ENSP00000453958.2:n.5917+33_5917+34delinsAT
ENST00000674301.2:c.5917+33_5917+34delinsAT	ENSP00000501333.2:n.5917+33_5917+34delinsAT
ENST00000684448.1:n.4591+33_4591+34delinsAT
ENST00000316623.10:c.5917+33_5917+34delinsAT MANE Select	ENSP00000325527.5:n.5917+33_5917+34delinsAT
ENST00000674301.1:c.916+33_916+34delinsAT	ENSP00000501333.1:n.916+33_916+34delinsAT
ENST00000316623.9:c.5917+33_5917+34delinsAT	ENSP00000325527.5:n.5917+33_5917+34delinsAT
ENST00000537463.6:c.*1680+33_*1680+34delinsAT	ENSP00000440294.2:n.*1680+33_*1680+34delinsAT
ENST00000559133.5:c.1224+33_1224+34delinsAT
ENST00000560820.1:n.37+33_37+34delinsAT
NM_000138.4:c.5917+33_5917+34delinsAT , LRG_778t1:c.5917+33_5917+34delinsAT	NP_000129.3:n.5917+33_5917+34delinsAT
NM_000138.5:c.5917+33_5917+34delinsAT MANE Select	NP_000129.3:n.5917+33_5917+34delinsAT