Canonical Allele Identifier: CA2175492299

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445380_48445381delinsAC , CM000677.2:g.48445380_48445381delinsAC	GRCh38
NC_000015.9:g.48737577_48737578delinsAC , CM000677.1:g.48737577_48737578delinsAC	GRCh37
NC_000015.8:g.46524869_46524870delinsAC	NCBI36
NG_008805.2:g.205408_205409delinsGT , LRG_778:g.205408_205409delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5912_5913delinsGT	ENSP00000453958.2:p.Cys1971=
ENST00000674301.2:c.5912_5913delinsGT	ENSP00000501333.2:p.Cys1971=
ENST00000684448.1:n.4586_4587delinsGT
ENST00000316623.10:c.5912_5913delinsGT MANE Select	ENSP00000325527.5:p.Cys1971=
ENST00000674301.1:c.911_912delinsGT	ENSP00000501333.1:p.Cys304=
ENST00000316623.9:c.5912_5913delinsGT	ENSP00000325527.5:p.Cys1971=
ENST00000537463.6:c.*1675_*1676delinsGT	ENSP00000440294.2:n.*1675_*1676delinsGT
ENST00000559133.5:c.1219_1220delinsGT
ENST00000560820.1:n.32_33delinsGT
NM_000138.4:c.5912_5913delinsGT , LRG_778t1:c.5912_5913delinsGT	NP_000129.3:p.Cys1971=
NM_000138.5:c.5912_5913delinsGT MANE Select	NP_000129.3:p.Cys1971=