Canonical Allele Identifier: CA2175492805

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445479_48445480delinsAT , CM000677.2:g.48445479_48445480delinsAT	GRCh38
NC_000015.9:g.48737676_48737677delinsAT , CM000677.1:g.48737676_48737677delinsAT	GRCh37
NC_000015.8:g.46524968_46524969delinsAT	NCBI36
NG_008805.2:g.205309_205310delinsAT , LRG_778:g.205309_205310delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5813_5814delinsAT	ENSP00000453958.2:p.Asn1938=
ENST00000674301.2:c.5813_5814delinsAT	ENSP00000501333.2:p.Asn1938=
ENST00000684448.1:n.4487_4488delinsAT
ENST00000316623.10:c.5813_5814delinsAT MANE Select	ENSP00000325527.5:p.Asn1938=
ENST00000674301.1:c.812_813delinsAT	ENSP00000501333.1:p.Asn271=
ENST00000316623.9:c.5813_5814delinsAT	ENSP00000325527.5:p.Asn1938=
ENST00000537463.6:c.*1576_*1577delinsAT	ENSP00000440294.2:n.*1576_*1577delinsAT
ENST00000559133.5:c.1120_1121delinsAT
NM_000138.4:c.5813_5814delinsAT , LRG_778t1:c.5813_5814delinsAT	NP_000129.3:p.Asn1938=
NM_000138.5:c.5813_5814delinsAT MANE Select	NP_000129.3:p.Asn1938=