Canonical Allele Identifier: CA969557336

Gene: FBN1

Linked Data

• dbSNP Id: rs2044667857
• gnomAD v3: 15-48612906-A-AACCT
• gnomAD v4: 15-48612906-A-AACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48612906_48612907insACCT , CM000677.2:g.48612906_48612907insACCT	GRCh38
NC_000015.9:g.48905103_48905104insACCT , CM000677.1:g.48905103_48905104insACCT	GRCh37
NC_000015.8:g.46692395_46692396insACCT	NCBI36
NG_008805.2:g.37882_37883insAGGT , LRG_778:g.37882_37883insAGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.247+103_247+104insAGGT	ENSP00000453958.2:n.247+103_247+104insAGGT
ENST00000674301.2:c.247+103_247+104insAGGT	ENSP00000501333.2:n.247+103_247+104insAGGT
ENST00000316623.10:c.247+103_247+104insAGGT MANE Select	ENSP00000325527.5:n.247+103_247+104insAGGT
ENST00000316623.9:c.247+103_247+104insAGGT	ENSP00000325527.5:n.247+103_247+104insAGGT
ENST00000537463.6:c.247+103_247+104insAGGT	ENSP00000440294.2:n.247+103_247+104insAGGT
NM_000138.4:c.247+103_247+104insAGGT , LRG_778t1:c.247+103_247+104insAGGT	NP_000129.3:n.247+103_247+104insAGGT
NM_000138.5:c.247+103_247+104insAGGT MANE Select	NP_000129.3:n.247+103_247+104insAGGT