Canonical Allele Identifier: CA919548814

Gene: FBN1

Linked Data

• dbSNP Id: rs1597560463

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48484168_48484169insTGT , CM000677.2:g.48484168_48484169insTGT	GRCh38
NC_000015.9:g.48776365_48776366insTGT , CM000677.1:g.48776365_48776366insTGT	GRCh37
NC_000015.8:g.46563657_46563658insTGT	NCBI36
NG_008805.2:g.166620_166621insACA , LRG_778:g.166620_166621insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-226_3713-225insACA	ENSP00000453958.2:n.3713-226_3713-225insACA
ENST00000674301.2:c.3713-226_3713-225insACA	ENSP00000501333.2:n.3713-226_3713-225insACA
ENST00000684448.1:n.2387-226_2387-225insACA
ENST00000316623.10:c.3713-226_3713-225insACA MANE Select	ENSP00000325527.5:n.3713-226_3713-225insACA
ENST00000316623.9:c.3713-226_3713-225insACA	ENSP00000325527.5:n.3713-226_3713-225insACA
ENST00000537463.6:c.637-9519_637-9518insACA	ENSP00000440294.2:n.637-9519_637-9518insACA
NM_000138.4:c.3713-226_3713-225insACA , LRG_778t1:c.3713-226_3713-225insACA	NP_000129.3:n.3713-226_3713-225insACA
NM_000138.5:c.3713-226_3713-225insACA MANE Select	NP_000129.3:n.3713-226_3713-225insACA