Canonical Allele Identifier: CA713425363

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48526106_48526116del , CM000677.2:g.48526106_48526116del	GRCh38
NC_000015.9:g.48818303_48818313del , CM000677.1:g.48818303_48818313del	GRCh37
NC_000015.8:g.46605595_46605605del	NCBI36
NG_008805.2:g.124675_124685del , LRG_778:g.124675_124685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.988+16_988+26del	ENSP00000453958.2:n.988+16_988+26del
ENST00000674301.2:c.988+16_988+26del	ENSP00000501333.2:n.988+16_988+26del
ENST00000316623.10:c.988+16_988+26del MANE Select	ENSP00000325527.5:n.988+16_988+26del
ENST00000316623.9:c.988+16_988+26del	ENSP00000325527.5:n.988+16_988+26del
ENST00000537463.6:c.636+11597_636+11607del	ENSP00000440294.2:n.636+11597_636+11607del
NM_000138.4:c.988+16_988+26del , LRG_778t1:c.988+16_988+26del	NP_000129.3:n.988+16_988+26del
NM_000138.5:c.988+16_988+26del MANE Select	NP_000129.3:n.988+16_988+26del