Canonical Allele Identifier: CA2175529404

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48509006_48509007delinsTA , CM000677.2:g.48509006_48509007delinsTA	GRCh38
NC_000015.9:g.48801203_48801204delinsTA , CM000677.1:g.48801203_48801204delinsTA	GRCh37
NC_000015.8:g.46588495_46588496delinsTA	NCBI36
NG_008805.2:g.141782_141783delinsTA , LRG_778:g.141782_141783delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1715-303_1715-302delinsTA	ENSP00000453958.2:n.1715-303_1715-302delinsTA
ENST00000674301.2:c.1715-303_1715-302delinsTA	ENSP00000501333.2:n.1715-303_1715-302delinsTA
ENST00000684448.1:n.389-303_389-302delinsTA
ENST00000316623.10:c.1715-303_1715-302delinsTA MANE Select	ENSP00000325527.5:n.1715-303_1715-302delinsTA
ENST00000316623.9:c.1715-303_1715-302delinsTA	ENSP00000325527.5:n.1715-303_1715-302delinsTA
ENST00000537463.6:c.636+28704_636+28705delinsTA	ENSP00000440294.2:n.636+28704_636+28705delinsTA
NM_000138.4:c.1715-303_1715-302delinsTA , LRG_778t1:c.1715-303_1715-302delinsTA	NP_000129.3:n.1715-303_1715-302delinsTA
NM_000138.5:c.1715-303_1715-302delinsTA MANE Select	NP_000129.3:n.1715-303_1715-302delinsTA