Canonical Allele Identifier: CA2628334073

Gene: FBN1

Linked Data

• gnomAD v4: 15-48472403-C-CTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472403_48472404insTGA , CM000677.2:g.48472403_48472404insTGA	GRCh38
NC_000015.9:g.48764600_48764601insTGA , CM000677.1:g.48764600_48764601insTGA	GRCh37
NC_000015.8:g.46551892_46551893insTGA	NCBI36
NG_008805.2:g.178385_178386insTCA , LRG_778:g.178385_178386insTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+147_4336+148insTCA	ENSP00000453958.2:n.4336+147_4336+148insTCA
ENST00000674301.2:c.4336+147_4336+148insTCA	ENSP00000501333.2:n.4336+147_4336+148insTCA
ENST00000683268.1:n.303+147_303+148insTCA
ENST00000684448.1:n.3010+147_3010+148insTCA
ENST00000316623.10:c.4336+147_4336+148insTCA MANE Select	ENSP00000325527.5:n.4336+147_4336+148insTCA
ENST00000316623.9:c.4336+147_4336+148insTCA	ENSP00000325527.5:n.4336+147_4336+148insTCA
ENST00000537463.6:c.*99+147_*99+148insTCA	ENSP00000440294.2:n.*99+147_*99+148insTCA
NM_000138.4:c.4336+147_4336+148insTCA , LRG_778t1:c.4336+147_4336+148insTCA	NP_000129.3:n.4336+147_4336+148insTCA
NM_000138.5:c.4336+147_4336+148insTCA MANE Select	NP_000129.3:n.4336+147_4336+148insTCA