Canonical Allele Identifier: CA2175510029

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48484181_48484183delinsAAG , CM000677.2:g.48484181_48484183delinsAAG	GRCh38
NC_000015.9:g.48776378_48776380delinsAAG , CM000677.1:g.48776378_48776380delinsAAG	GRCh37
NC_000015.8:g.46563670_46563672delinsAAG	NCBI36
NG_008805.2:g.166606_166608delinsCTT , LRG_778:g.166606_166608delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-240_3713-238delinsCTT	ENSP00000453958.2:n.3713-240_3713-238delinsCTT
ENST00000674301.2:c.3713-240_3713-238delinsCTT	ENSP00000501333.2:n.3713-240_3713-238delinsCTT
ENST00000684448.1:n.2387-240_2387-238delinsCTT
ENST00000316623.10:c.3713-240_3713-238delinsCTT MANE Select	ENSP00000325527.5:n.3713-240_3713-238delinsCTT
ENST00000316623.9:c.3713-240_3713-238delinsCTT	ENSP00000325527.5:n.3713-240_3713-238delinsCTT
ENST00000537463.6:c.637-9533_637-9531delinsCTT	ENSP00000440294.2:n.637-9533_637-9531delinsCTT
NM_000138.4:c.3713-240_3713-238delinsCTT , LRG_778t1:c.3713-240_3713-238delinsCTT	NP_000129.3:n.3713-240_3713-238delinsCTT
NM_000138.5:c.3713-240_3713-238delinsCTT MANE Select	NP_000129.3:n.3713-240_3713-238delinsCTT