Canonical Allele Identifier: CA2175574395

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48612888_48612897delinsTGGAAGGCTG , CM000677.2:g.48612888_48612897delinsTGGAAGGCTG	GRCh38
NC_000015.9:g.48905085_48905094delinsTGGAAGGCTG , CM000677.1:g.48905085_48905094delinsTGGAAGGCTG	GRCh37
NC_000015.8:g.46692377_46692386delinsTGGAAGGCTG	NCBI36
NG_008805.2:g.37892_37901delinsCAGCCTTCCA , LRG_778:g.37892_37901delinsCAGCCTTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.247+113_247+122delinsCAGCCTTCCA	ENSP00000453958.2:n.247+113_247+122delinsCAGCCTTCCA
ENST00000674301.2:c.247+113_247+122delinsCAGCCTTCCA	ENSP00000501333.2:n.247+113_247+122delinsCAGCCTTCCA
ENST00000316623.10:c.247+113_247+122delinsCAGCCTTCCA MANE Select	ENSP00000325527.5:n.247+113_247+122delinsCAGCCTTCCA
ENST00000316623.9:c.247+113_247+122delinsCAGCCTTCCA	ENSP00000325527.5:n.247+113_247+122delinsCAGCCTTCCA
ENST00000537463.6:c.247+113_247+122delinsCAGCCTTCCA	ENSP00000440294.2:n.247+113_247+122delinsCAGCCTTCCA
NM_000138.4:c.247+113_247+122delinsCAGCCTTCCA , LRG_778t1:c.247+113_247+122delinsCAGCCTTCCA	NP_000129.3:n.247+113_247+122delinsCAGCCTTCCA
NM_000138.5:c.247+113_247+122delinsCAGCCTTCCA MANE Select	NP_000129.3:n.247+113_247+122delinsCAGCCTTCCA