Canonical Allele Identifier: CA2175465026

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422216_48422217delinsCA , CM000677.2:g.48422216_48422217delinsCA	GRCh38
NC_000015.9:g.48714413_48714414delinsCA , CM000677.1:g.48714413_48714414delinsCA	GRCh37
NC_000015.8:g.46501705_46501706delinsCA	NCBI36
NG_008805.2:g.228572_228573delinsTG , LRG_778:g.228572_228573delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-149_*262-148delinsTG	ENSP00000453958.2:n.*262-149_*262-148delinsTG
ENST00000674301.2:c.*967-149_*967-148delinsTG	ENSP00000501333.2:n.*967-149_*967-148delinsTG
ENST00000682170.1:n.1635-149_1635-148delinsTG
ENST00000682767.1:n.751-149_751-148delinsTG
ENST00000316623.10:c.7454-149_7454-148delinsTG MANE Select	ENSP00000325527.5:n.7454-149_7454-148delinsTG
ENST00000674301.1:c.2620-149_2620-148delinsTG	ENSP00000501333.1:n.2620-149_2620-148delinsTG
ENST00000316623.9:c.7454-149_7454-148delinsTG	ENSP00000325527.5:n.7454-149_7454-148delinsTG
ENST00000559133.5:c.2823-149_2823-148delinsTG
NM_000138.4:c.7454-149_7454-148delinsTG , LRG_778t1:c.7454-149_7454-148delinsTG	NP_000129.3:n.7454-149_7454-148delinsTG
NM_000138.5:c.7454-149_7454-148delinsTG MANE Select	NP_000129.3:n.7454-149_7454-148delinsTG