Canonical Allele Identifier: CA2520811616

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434462_48434463insGTTGTGTGTT , CM000677.2:g.48434462_48434463insGTTGTGTGTT	GRCh38
NC_000015.9:g.48726659_48726660insGTTGTGTGTT , CM000677.1:g.48726659_48726660insGTTGTGTGTT	GRCh37
NC_000015.8:g.46513951_46513952insGTTGTGTGTT	NCBI36
NG_008805.2:g.216326_216327insAACACACAAC , LRG_778:g.216326_216327insAACACACAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+131_6616+132insAACACACAAC	ENSP00000453958.2:n.6616+131_6616+132insAACACACAAC
ENST00000674301.2:c.6616+131_6616+132insAACACACAAC	ENSP00000501333.2:n.6616+131_6616+132insAACACACAAC
ENST00000682170.1:n.225+131_225+132insAACACACAAC
ENST00000316623.10:c.6616+131_6616+132insAACACACAAC MANE Select	ENSP00000325527.5:n.6616+131_6616+132insAACACACAAC
ENST00000674301.1:c.1615+131_1615+132insAACACACAAC	ENSP00000501333.1:n.1615+131_1615+132insAACACACAAC
ENST00000316623.9:c.6616+131_6616+132insAACACACAAC	ENSP00000325527.5:n.6616+131_6616+132insAACACACAAC
ENST00000537463.6:c.*2379+131_*2379+132insAACACACAAC	ENSP00000440294.2:n.*2379+131_*2379+132insAACACACAAC
ENST00000559133.5:c.1923+131_1923+132insAACACACAAC
NM_000138.4:c.6616+131_6616+132insAACACACAAC , LRG_778t1:c.6616+131_6616+132insAACACACAAC	NP_000129.3:n.6616+131_6616+132insAACACACAAC
NM_000138.5:c.6616+131_6616+132insAACACACAAC MANE Select	NP_000129.3:n.6616+131_6616+132insAACACACAAC