Canonical Allele Identifier: CA2175525966

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494082_48494083delinsAT , CM000677.2:g.48494082_48494083delinsAT	GRCh38
NC_000015.9:g.48786279_48786280delinsAT , CM000677.1:g.48786279_48786280delinsAT	GRCh37
NC_000015.8:g.46573571_46573572delinsAT	NCBI36
NG_008805.2:g.156706_156707delinsAT , LRG_778:g.156706_156707delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2728+121_2728+122delinsAT	ENSP00000453958.2:n.2728+121_2728+122delinsAT
ENST00000674301.2:c.2728+121_2728+122delinsAT	ENSP00000501333.2:n.2728+121_2728+122delinsAT
ENST00000684448.1:n.1402+121_1402+122delinsAT
ENST00000316623.10:c.2728+121_2728+122delinsAT MANE Select	ENSP00000325527.5:n.2728+121_2728+122delinsAT
ENST00000316623.9:c.2728+121_2728+122delinsAT	ENSP00000325527.5:n.2728+121_2728+122delinsAT
ENST00000537463.6:c.637-19433_637-19432delinsAT	ENSP00000440294.2:n.637-19433_637-19432delinsAT
NM_000138.4:c.2728+121_2728+122delinsAT , LRG_778t1:c.2728+121_2728+122delinsAT	NP_000129.3:n.2728+121_2728+122delinsAT
NM_000138.5:c.2728+121_2728+122delinsAT MANE Select	NP_000129.3:n.2728+121_2728+122delinsAT