Canonical Allele Identifier: CA2175510019

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48484171_48484172delinsAC , CM000677.2:g.48484171_48484172delinsAC	GRCh38
NC_000015.9:g.48776368_48776369delinsAC , CM000677.1:g.48776368_48776369delinsAC	GRCh37
NC_000015.8:g.46563660_46563661delinsAC	NCBI36
NG_008805.2:g.166617_166618delinsGT , LRG_778:g.166617_166618delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-229_3713-228delinsGT	ENSP00000453958.2:n.3713-229_3713-228delinsGT
ENST00000674301.2:c.3713-229_3713-228delinsGT	ENSP00000501333.2:n.3713-229_3713-228delinsGT
ENST00000684448.1:n.2387-229_2387-228delinsGT
ENST00000316623.10:c.3713-229_3713-228delinsGT MANE Select	ENSP00000325527.5:n.3713-229_3713-228delinsGT
ENST00000316623.9:c.3713-229_3713-228delinsGT	ENSP00000325527.5:n.3713-229_3713-228delinsGT
ENST00000537463.6:c.637-9522_637-9521delinsGT	ENSP00000440294.2:n.637-9522_637-9521delinsGT
NM_000138.4:c.3713-229_3713-228delinsGT , LRG_778t1:c.3713-229_3713-228delinsGT	NP_000129.3:n.3713-229_3713-228delinsGT
NM_000138.5:c.3713-229_3713-228delinsGT MANE Select	NP_000129.3:n.3713-229_3713-228delinsGT