Canonical Allele Identifier: CA2175529247

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508636_48508637delinsTA , CM000677.2:g.48508636_48508637delinsTA	GRCh38
NC_000015.9:g.48800833_48800834delinsTA , CM000677.1:g.48800833_48800834delinsTA	GRCh37
NC_000015.8:g.46588125_46588126delinsTA	NCBI36
NG_008805.2:g.142152_142153delinsTA , LRG_778:g.142152_142153delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1782_1783delinsTA	ENSP00000453958.2:p.Phe594=
ENST00000674301.2:c.1782_1783delinsTA	ENSP00000501333.2:p.Phe594=
ENST00000684448.1:n.456_457delinsTA
ENST00000316623.10:c.1782_1783delinsTA MANE Select	ENSP00000325527.5:p.Phe594=
ENST00000316623.9:c.1782_1783delinsTA	ENSP00000325527.5:p.Phe594=
ENST00000537463.6:c.636+29074_636+29075delinsTA	ENSP00000440294.2:n.636+29074_636+29075delinsTA
NM_000138.4:c.1782_1783delinsTA , LRG_778t1:c.1782_1783delinsTA	NP_000129.3:p.Phe594=
NM_000138.5:c.1782_1783delinsTA MANE Select	NP_000129.3:p.Phe594=