Canonical Allele Identifier: CA2628334108

Gene: FBN1

Linked Data

• gnomAD v4: 15-48472441-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472444_48472445del , CM000677.2:g.48472444_48472445del	GRCh38
NC_000015.9:g.48764641_48764642del , CM000677.1:g.48764641_48764642del	GRCh37
NC_000015.8:g.46551933_46551934del	NCBI36
NG_008805.2:g.178346_178347del , LRG_778:g.178346_178347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+108_4336+109del	ENSP00000453958.2:n.4336+108_4336+109del
ENST00000674301.2:c.4336+108_4336+109del	ENSP00000501333.2:n.4336+108_4336+109del
ENST00000683268.1:n.303+108_303+109del
ENST00000684448.1:n.3010+108_3010+109del
ENST00000316623.10:c.4336+108_4336+109del MANE Select	ENSP00000325527.5:n.4336+108_4336+109del
ENST00000316623.9:c.4336+108_4336+109del	ENSP00000325527.5:n.4336+108_4336+109del
ENST00000537463.6:c.*99+108_*99+109del	ENSP00000440294.2:n.*99+108_*99+109del
NM_000138.4:c.4336+108_4336+109del , LRG_778t1:c.4336+108_4336+109del	NP_000129.3:n.4336+108_4336+109del
NM_000138.5:c.4336+108_4336+109del MANE Select	NP_000129.3:n.4336+108_4336+109del