Canonical Allele Identifier: CA2175529338

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508845_48508848delinsGATC , CM000677.2:g.48508845_48508848delinsGATC	GRCh38
NC_000015.9:g.48801042_48801045delinsGATC , CM000677.1:g.48801042_48801045delinsGATC	GRCh37
NC_000015.8:g.46588334_46588337delinsGATC	NCBI36
NG_008805.2:g.141941_141944delinsGATC , LRG_778:g.141941_141944delinsGATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1715-144_1715-141delinsGATC	ENSP00000453958.2:n.1715-144_1715-141delinsGATC
ENST00000674301.2:c.1715-144_1715-141delinsGATC	ENSP00000501333.2:n.1715-144_1715-141delinsGATC
ENST00000684448.1:n.389-144_389-141delinsGATC
ENST00000316623.10:c.1715-144_1715-141delinsGATC MANE Select	ENSP00000325527.5:n.1715-144_1715-141delinsGATC
ENST00000316623.9:c.1715-144_1715-141delinsGATC	ENSP00000325527.5:n.1715-144_1715-141delinsGATC
ENST00000537463.6:c.636+28863_636+28866delinsGATC	ENSP00000440294.2:n.636+28863_636+28866delinsGATC
NM_000138.4:c.1715-144_1715-141delinsGATC , LRG_778t1:c.1715-144_1715-141delinsGATC	NP_000129.3:n.1715-144_1715-141delinsGATC
NM_000138.5:c.1715-144_1715-141delinsGATC MANE Select	NP_000129.3:n.1715-144_1715-141delinsGATC