Canonical Allele Identifier: CA2175511797

Gene: FBN1

Linked Data

• dbSNP Id: rs2043138310

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444441_48444445dup , CM000677.2:g.48444441_48444445dup	GRCh38
NC_000015.9:g.48736638_48736642dup , CM000677.1:g.48736638_48736642dup	GRCh37
NC_000015.8:g.46523930_46523934dup	NCBI36
NG_008805.2:g.206346_206350dup , LRG_778:g.206346_206350dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6037+98_6037+102dup	ENSP00000453958.2:n.6037+98_6037+102dup
ENST00000674301.2:c.6037+98_6037+102dup	ENSP00000501333.2:n.6037+98_6037+102dup
ENST00000684448.1:n.4809_4813dup
ENST00000316623.10:c.6037+98_6037+102dup MANE Select	ENSP00000325527.5:n.6037+98_6037+102dup
ENST00000674301.1:c.1036+98_1036+102dup	ENSP00000501333.1:n.1036+98_1036+102dup
ENST00000316623.9:c.6037+98_6037+102dup	ENSP00000325527.5:n.6037+98_6037+102dup
ENST00000537463.6:c.*1800+98_*1800+102dup	ENSP00000440294.2:n.*1800+98_*1800+102dup
ENST00000559133.5:c.1344+98_1344+102dup
ENST00000560820.1:n.157+98_157+102dup
NM_000138.4:c.6037+98_6037+102dup , LRG_778t1:c.6037+98_6037+102dup	NP_000129.3:n.6037+98_6037+102dup
NM_000138.5:c.6037+98_6037+102dup MANE Select	NP_000129.3:n.6037+98_6037+102dup