Canonical Allele Identifier: CA7547901

Gene: FBN1

Linked Data

• dbSNP Id: rs778808966
• ExAC: 15:48714116 A / AAT
• gnomAD v2: 15-48714116-A-AAT
• gnomAD v3: 15-48421919-A-AAT
• gnomAD v4: 15-48421919-A-AAT
• MyVariant Identifiers: chr15:g.48714116_48714117insAT (hg19) ; chr15:g.48421919_48421920insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421920_48421921dup , CM000677.2:g.48421920_48421921dup	GRCh38
NC_000015.9:g.48714117_48714118dup , CM000677.1:g.48714117_48714118dup	GRCh37
NC_000015.8:g.46501409_46501410dup	NCBI36
NG_008805.2:g.228868_228869dup , LRG_778:g.228868_228869dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*378+31_*378+32dup	ENSP00000453958.2:n.*378+31_*378+32dup
ENST00000674301.2:c.*1083+31_*1083+32dup	ENSP00000501333.2:n.*1083+31_*1083+32dup
ENST00000682170.1:n.1751+31_1751+32dup
ENST00000682767.1:n.867+31_867+32dup
ENST00000316623.10:c.7570+31_7570+32dup MANE Select	ENSP00000325527.5:n.7570+31_7570+32dup
ENST00000674301.1:c.2736+31_2736+32dup	ENSP00000501333.1:n.2736+31_2736+32dup
ENST00000316623.9:c.7570+31_7570+32dup	ENSP00000325527.5:n.7570+31_7570+32dup
ENST00000559133.5:c.2939+31_2939+32dup
NM_000138.4:c.7570+31_7570+32dup , LRG_778t1:c.7570+31_7570+32dup	NP_000129.3:n.7570+31_7570+32dup
NM_000138.5:c.7570+31_7570+32dup MANE Select	NP_000129.3:n.7570+31_7570+32dup