Canonical Allele Identifier: CA2175486786

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411349_48411350delinsGA , CM000677.2:g.48411349_48411350delinsGA	GRCh38
NC_000015.9:g.48703546_48703547delinsGA , CM000677.1:g.48703546_48703547delinsGA	GRCh37
NC_000015.8:g.46490838_46490839delinsGA	NCBI36
NG_008805.2:g.239439_239440delinsTC , LRG_778:g.239439_239440delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1064_*1065delinsTC	ENSP00000453958.2:n.*1064_*1065delinsTC
ENST00000674301.2:c.*1769_*1770delinsTC	ENSP00000501333.2:n.*1769_*1770delinsTC
ENST00000682158.1:n.1637_1638delinsTC
ENST00000682170.1:n.2437_2438delinsTC
ENST00000682767.1:n.1553_1554delinsTC
ENST00000316623.10:c.8256_8257delinsTC MANE Select	ENSP00000325527.5:p.Ser2752=
ENST00000674301.1:c.3422_3423delinsTC	ENSP00000501333.1:n.3422_3423delinsTC
ENST00000316623.9:c.8256_8257delinsTC	ENSP00000325527.5:p.Ser2752=
ENST00000559133.5:c.3625_3626delinsTC
ENST00000561429.1:n.511_512delinsTC
NM_000138.4:c.8256_8257delinsTC , LRG_778t1:c.8256_8257delinsTC	NP_000129.3:p.Ser2752=
NM_000138.5:c.8256_8257delinsTC MANE Select	NP_000129.3:p.Ser2752=