Canonical Allele Identifier: CA2175513981

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487106_48487107delinsGT , CM000677.2:g.48487106_48487107delinsGT	GRCh38
NC_000015.9:g.48779303_48779304delinsGT , CM000677.1:g.48779303_48779304delinsGT	GRCh37
NC_000015.8:g.46566595_46566596delinsGT	NCBI36
NG_008805.2:g.163682_163683delinsAC , LRG_778:g.163682_163683delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3557_3558delinsAC	ENSP00000453958.2:p.Tyr1186=
ENST00000674301.2:c.3557_3558delinsAC	ENSP00000501333.2:p.Tyr1186=
ENST00000684448.1:n.2231_2232delinsAC
ENST00000316623.10:c.3557_3558delinsAC MANE Select	ENSP00000325527.5:p.Tyr1186=
ENST00000316623.9:c.3557_3558delinsAC	ENSP00000325527.5:p.Tyr1186=
ENST00000537463.6:c.637-12457_637-12456delinsAC	ENSP00000440294.2:n.637-12457_637-12456delinsAC
NM_000138.4:c.3557_3558delinsAC , LRG_778t1:c.3557_3558delinsAC	NP_000129.3:p.Tyr1186=
NM_000138.5:c.3557_3558delinsAC MANE Select	NP_000129.3:p.Tyr1186=