Canonical Allele Identifier: CA2628334628

Gene: FBN1

Linked Data

• gnomAD v4: 15-48492363-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492365_48492366del , CM000677.2:g.48492365_48492366del	GRCh38
NC_000015.9:g.48784562_48784563del , CM000677.1:g.48784562_48784563del	GRCh37
NC_000015.8:g.46571854_46571855del	NCBI36
NG_008805.2:g.158424_158425del , LRG_778:g.158424_158425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2854+96_2854+97del	ENSP00000453958.2:n.2854+96_2854+97del
ENST00000674301.2:c.2854+96_2854+97del	ENSP00000501333.2:n.2854+96_2854+97del
ENST00000684448.1:n.1528+96_1528+97del
ENST00000316623.10:c.2854+96_2854+97del MANE Select	ENSP00000325527.5:n.2854+96_2854+97del
ENST00000316623.9:c.2854+96_2854+97del	ENSP00000325527.5:n.2854+96_2854+97del
ENST00000537463.6:c.637-17715_637-17714del	ENSP00000440294.2:n.637-17715_637-17714del
NM_000138.4:c.2854+96_2854+97del , LRG_778t1:c.2854+96_2854+97del	NP_000129.3:n.2854+96_2854+97del
NM_000138.5:c.2854+96_2854+97del MANE Select	NP_000129.3:n.2854+96_2854+97del