Canonical Allele Identifier: CA2837240843

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483943_48483953delinsGTTT , CM000677.2:g.48483943_48483953delinsGTTT	GRCh38
NC_000015.9:g.48776140_48776150delinsGTTT , CM000677.1:g.48776140_48776150delinsGTTT	GRCh37
NC_000015.8:g.46563432_46563442delinsGTTT	NCBI36
NG_008805.2:g.166836_166846delinsAAAC , LRG_778:g.166836_166846delinsAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-10_3713delinsAAAC
ENST00000674301.2:c.3713-10_3713delinsAAAC
ENST00000684448.1:n.2387-10_2387delinsAAAC
ENST00000316623.10:c.3713-10_3713delinsAAAC
ENST00000316623.9:c.3713-10_3713delinsAAAC
ENST00000537463.6:c.637-9303_637-9293delinsAAAC	ENSP00000440294.2:n.637-9303_637-9293delinsAAAC
NM_000138.4:c.3713-10_3713delinsAAAC , LRG_778t1:c.3713-10_3713delinsAAAC
NM_000138.5:c.3713-10_3713delinsAAAC