Canonical Allele Identifier: CA2175526150

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494230_48494231delinsGA , CM000677.2:g.48494230_48494231delinsGA	GRCh38
NC_000015.9:g.48786427_48786428delinsGA , CM000677.1:g.48786427_48786428delinsGA	GRCh37
NC_000015.8:g.46573719_46573720delinsGA	NCBI36
NG_008805.2:g.156558_156559delinsTC , LRG_778:g.156558_156559delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2701_2702delinsTC	ENSP00000453958.2:p.Ser901=
ENST00000674301.2:c.2701_2702delinsTC	ENSP00000501333.2:p.Ser901=
ENST00000684448.1:n.1375_1376delinsTC
ENST00000316623.10:c.2701_2702delinsTC MANE Select	ENSP00000325527.5:p.Ser901=
ENST00000316623.9:c.2701_2702delinsTC	ENSP00000325527.5:p.Ser901=
ENST00000537463.6:c.637-19581_637-19580delinsTC	ENSP00000440294.2:n.637-19581_637-19580delinsTC
NM_000138.4:c.2701_2702delinsTC , LRG_778t1:c.2701_2702delinsTC	NP_000129.3:p.Ser901=
NM_000138.5:c.2701_2702delinsTC MANE Select	NP_000129.3:p.Ser901=