Canonical Allele Identifier: CA2804072425

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48484208_48484211del , CM000677.2:g.48484208_48484211del	GRCh38
NC_000015.9:g.48776405_48776408del , CM000677.1:g.48776405_48776408del	GRCh37
NC_000015.8:g.46563697_46563700del	NCBI36
NG_008805.2:g.166584_166587del , LRG_778:g.166584_166587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-262_3713-259del	ENSP00000453958.2:n.3713-262_3713-259del
ENST00000674301.2:c.3713-262_3713-259del	ENSP00000501333.2:n.3713-262_3713-259del
ENST00000684448.1:n.2387-262_2387-259del
ENST00000316623.10:c.3713-262_3713-259del MANE Select	ENSP00000325527.5:n.3713-262_3713-259del
ENST00000316623.9:c.3713-262_3713-259del	ENSP00000325527.5:n.3713-262_3713-259del
ENST00000537463.6:c.637-9555_637-9552del	ENSP00000440294.2:n.637-9555_637-9552del
NM_000138.4:c.3713-262_3713-259del , LRG_778t1:c.3713-262_3713-259del	NP_000129.3:n.3713-262_3713-259del
NM_000138.5:c.3713-262_3713-259del MANE Select	NP_000129.3:n.3713-262_3713-259del