Canonical Allele Identifier: CA2175511758

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444410_48444411delinsCA , CM000677.2:g.48444410_48444411delinsCA	GRCh38
NC_000015.9:g.48736607_48736608delinsCA , CM000677.1:g.48736607_48736608delinsCA	GRCh37
NC_000015.8:g.46523899_46523900delinsCA	NCBI36
NG_008805.2:g.206378_206379delinsTG , LRG_778:g.206378_206379delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6037+130_6037+131delinsTG	ENSP00000453958.2:n.6037+130_6037+131delinsTG
ENST00000674301.2:c.6037+130_6037+131delinsTG	ENSP00000501333.2:n.6037+130_6037+131delinsTG
ENST00000684448.1:n.4841_4842delinsTG
ENST00000316623.10:c.6037+130_6037+131delinsTG MANE Select	ENSP00000325527.5:n.6037+130_6037+131delinsTG
ENST00000674301.1:c.1036+130_1036+131delinsTG	ENSP00000501333.1:n.1036+130_1036+131delinsTG
ENST00000316623.9:c.6037+130_6037+131delinsTG	ENSP00000325527.5:n.6037+130_6037+131delinsTG
ENST00000537463.6:c.*1800+130_*1800+131delinsTG	ENSP00000440294.2:n.*1800+130_*1800+131delinsTG
ENST00000559133.5:c.1344+130_1344+131delinsTG
ENST00000560820.1:n.157+130_157+131delinsTG
NM_000138.4:c.6037+130_6037+131delinsTG , LRG_778t1:c.6037+130_6037+131delinsTG	NP_000129.3:n.6037+130_6037+131delinsTG
NM_000138.5:c.6037+130_6037+131delinsTG MANE Select	NP_000129.3:n.6037+130_6037+131delinsTG