Canonical Allele Identifier: CA2695196372

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445123_48445125delinsCAT , CM000677.2:g.48445123_48445125delinsCAT	GRCh38
NC_000015.9:g.48737320_48737322delinsCAT , CM000677.1:g.48737320_48737322delinsCAT	GRCh37
NC_000015.8:g.46524612_46524614delinsCAT	NCBI36
NG_008805.2:g.205664_205666delinsATG , LRG_778:g.205664_205666delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+251_5917+253delinsATG	ENSP00000453958.2:n.5917+251_5917+253delinsATG
ENST00000674301.2:c.5917+251_5917+253delinsATG	ENSP00000501333.2:n.5917+251_5917+253delinsATG
ENST00000684448.1:n.4591+251_4591+253delinsATG
ENST00000316623.10:c.5917+251_5917+253delinsATG MANE Select	ENSP00000325527.5:n.5917+251_5917+253delinsATG
ENST00000674301.1:c.916+251_916+253delinsATG	ENSP00000501333.1:n.916+251_916+253delinsATG
ENST00000316623.9:c.5917+251_5917+253delinsATG	ENSP00000325527.5:n.5917+251_5917+253delinsATG
ENST00000537463.6:c.*1680+251_*1680+253delinsATG	ENSP00000440294.2:n.*1680+251_*1680+253delinsATG
ENST00000559133.5:c.1224+251_1224+253delinsATG
ENST00000560820.1:n.37+251_37+253delinsATG
NM_000138.4:c.5917+251_5917+253delinsATG , LRG_778t1:c.5917+251_5917+253delinsATG	NP_000129.3:n.5917+251_5917+253delinsATG
NM_000138.5:c.5917+251_5917+253delinsATG MANE Select	NP_000129.3:n.5917+251_5917+253delinsATG