Canonical Allele Identifier: CA2575717180

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2944216
• ClinVar RCV Id: RCV003805966

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472540_48472547dup , CM000677.2:g.48472540_48472547dup	GRCh38
NC_000015.9:g.48764737_48764744dup , CM000677.1:g.48764737_48764744dup	GRCh37
NC_000015.8:g.46552029_46552036dup	NCBI36
NG_008805.2:g.178242_178249dup , LRG_778:g.178242_178249dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+4_4336+11dup	ENSP00000453958.2:n.4336+4_4336+11dup
ENST00000674301.2:c.4336+4_4336+11dup	ENSP00000501333.2:n.4336+4_4336+11dup
ENST00000683268.1:n.303+4_303+11dup
ENST00000684448.1:n.3010+4_3010+11dup
ENST00000316623.10:c.4336+4_4336+11dup MANE Select	ENSP00000325527.5:n.4336+4_4336+11dup
ENST00000316623.9:c.4336+4_4336+11dup	ENSP00000325527.5:n.4336+4_4336+11dup
ENST00000537463.6:c.*99+4_*99+11dup	ENSP00000440294.2:n.*99+4_*99+11dup
NM_000138.4:c.4336+4_4336+11dup , LRG_778t1:c.4336+4_4336+11dup	NP_000129.3:n.4336+4_4336+11dup
NM_000138.5:c.4336+4_4336+11dup MANE Select	NP_000129.3:n.4336+4_4336+11dup