Canonical Allele Identifier: CA617833328

Gene: FBN1

Linked Data

• gnomAD v2: 15-48764654-T-TA
• gnomAD v3: 15-48472457-T-TA
• gnomAD v4: 15-48472457-T-TA
• MyVariant Identifiers: chr15:g.48764654_48764655insA (hg19) ; chr15:g.48472457_48472458insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472457_48472458insA , CM000677.2:g.48472457_48472458insA	GRCh38
NC_000015.9:g.48764654_48764655insA , CM000677.1:g.48764654_48764655insA	GRCh37
NC_000015.8:g.46551946_46551947insA	NCBI36
NG_008805.2:g.178331_178332insT , LRG_778:g.178331_178332insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+93_4336+94insT	ENSP00000453958.2:n.4336+93_4336+94insT
ENST00000674301.2:c.4336+93_4336+94insT	ENSP00000501333.2:n.4336+93_4336+94insT
ENST00000683268.1:n.303+93_303+94insT
ENST00000684448.1:n.3010+93_3010+94insT
ENST00000316623.10:c.4336+93_4336+94insT MANE Select	ENSP00000325527.5:n.4336+93_4336+94insT
ENST00000316623.9:c.4336+93_4336+94insT	ENSP00000325527.5:n.4336+93_4336+94insT
ENST00000537463.6:c.*99+93_*99+94insT	ENSP00000440294.2:n.*99+93_*99+94insT
NM_000138.4:c.4336+93_4336+94insT , LRG_778t1:c.4336+93_4336+94insT	NP_000129.3:n.4336+93_4336+94insT
NM_000138.5:c.4336+93_4336+94insT MANE Select	NP_000129.3:n.4336+93_4336+94insT