Canonical Allele Identifier: CA2175493834

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432816_48432817delinsCT , CM000677.2:g.48432816_48432817delinsCT	GRCh38
NC_000015.9:g.48725013_48725014delinsCT , CM000677.1:g.48725013_48725014delinsCT	GRCh37
NC_000015.8:g.46512305_46512306delinsCT	NCBI36
NG_008805.2:g.217972_217973delinsAG , LRG_778:g.217972_217973delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6739+49_6739+50delinsAG	ENSP00000453958.2:n.6739+49_6739+50delinsAG
ENST00000674301.2:c.*190+49_*190+50delinsAG	ENSP00000501333.2:n.*190+49_*190+50delinsAG
ENST00000682170.1:n.348+49_348+50delinsAG
ENST00000316623.10:c.6739+49_6739+50delinsAG MANE Select	ENSP00000325527.5:n.6739+49_6739+50delinsAG
ENST00000674301.1:c.1843+49_1843+50delinsAG	ENSP00000501333.1:n.1843+49_1843+50delinsAG
ENST00000316623.9:c.6739+49_6739+50delinsAG	ENSP00000325527.5:n.6739+49_6739+50delinsAG
ENST00000537463.6:c.*2502+49_*2502+50delinsAG	ENSP00000440294.2:n.*2502+49_*2502+50delinsAG
ENST00000559133.5:c.2046+49_2046+50delinsAG
ENST00000560720.1:n.26+49_26+50delinsAG
NM_000138.4:c.6739+49_6739+50delinsAG , LRG_778t1:c.6739+49_6739+50delinsAG	NP_000129.3:n.6739+49_6739+50delinsAG
NM_000138.5:c.6739+49_6739+50delinsAG MANE Select	NP_000129.3:n.6739+49_6739+50delinsAG