Canonical Allele Identifier: CA2175521227

Gene: FBN1

Linked Data

• dbSNP Id: rs2043541243

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489840_48489841insTTC , CM000677.2:g.48489840_48489841insTTC	GRCh38
NC_000015.9:g.48782037_48782038insTTC , CM000677.1:g.48782037_48782038insTTC	GRCh37
NC_000015.8:g.46569329_46569330insTTC	NCBI36
NG_008805.2:g.160948_160949insGAA , LRG_778:g.160948_160949insGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3082+10_3082+11insGAA	ENSP00000453958.2:n.3082+10_3082+11insGAA
ENST00000674301.2:c.3082+10_3082+11insGAA	ENSP00000501333.2:n.3082+10_3082+11insGAA
ENST00000684448.1:n.1756+10_1756+11insGAA
ENST00000316623.10:c.3082+10_3082+11insGAA MANE Select	ENSP00000325527.5:n.3082+10_3082+11insGAA
ENST00000316623.9:c.3082+10_3082+11insGAA	ENSP00000325527.5:n.3082+10_3082+11insGAA
ENST00000537463.6:c.637-15191_637-15190insGAA	ENSP00000440294.2:n.637-15191_637-15190insGAA
NM_000138.4:c.3082+10_3082+11insGAA , LRG_778t1:c.3082+10_3082+11insGAA	NP_000129.3:n.3082+10_3082+11insGAA
NM_000138.5:c.3082+10_3082+11insGAA MANE Select	NP_000129.3:n.3082+10_3082+11insGAA