Canonical Allele Identifier: CA2628325397

Gene: FBN1

Linked Data

• gnomAD v4: 15-48412805-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412808_48412809del , CM000677.2:g.48412808_48412809del	GRCh38
NC_000015.9:g.48705005_48705006del , CM000677.1:g.48705005_48705006del	GRCh37
NC_000015.8:g.46492297_46492298del	NCBI36
NG_008805.2:g.237982_237983del , LRG_778:g.237982_237983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-64_*860-63del	ENSP00000453958.2:n.*860-64_*860-63del
ENST00000674301.2:c.*1565-64_*1565-63del	ENSP00000501333.2:n.*1565-64_*1565-63del
ENST00000682158.1:n.1433-64_1433-63del
ENST00000682170.1:n.2233-64_2233-63del
ENST00000682767.1:n.1349-64_1349-63del
ENST00000316623.10:c.8052-64_8052-63del MANE Select	ENSP00000325527.5:n.8052-64_8052-63del
ENST00000674301.1:c.3218-64_3218-63del	ENSP00000501333.1:n.3218-64_3218-63del
ENST00000316623.9:c.8052-64_8052-63del	ENSP00000325527.5:n.8052-64_8052-63del
ENST00000559133.5:c.3421-64_3421-63del
ENST00000561429.1:n.307-64_307-63del
NM_000138.4:c.8052-64_8052-63del , LRG_778t1:c.8052-64_8052-63del	NP_000129.3:n.8052-64_8052-63del
NM_000138.5:c.8052-64_8052-63del MANE Select	NP_000129.3:n.8052-64_8052-63del