Canonical Allele Identifier: CA2175529415

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48509031_48509033delinsCCT , CM000677.2:g.48509031_48509033delinsCCT	GRCh38
NC_000015.9:g.48801228_48801230delinsCCT , CM000677.1:g.48801228_48801230delinsCCT	GRCh37
NC_000015.8:g.46588520_46588522delinsCCT	NCBI36
NG_008805.2:g.141756_141758delinsAGG , LRG_778:g.141756_141758delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1715-329_1715-327delinsAGG	ENSP00000453958.2:n.1715-329_1715-327delinsAGG
ENST00000674301.2:c.1715-329_1715-327delinsAGG	ENSP00000501333.2:n.1715-329_1715-327delinsAGG
ENST00000684448.1:n.389-329_389-327delinsAGG
ENST00000316623.10:c.1715-329_1715-327delinsAGG MANE Select	ENSP00000325527.5:n.1715-329_1715-327delinsAGG
ENST00000316623.9:c.1715-329_1715-327delinsAGG	ENSP00000325527.5:n.1715-329_1715-327delinsAGG
ENST00000537463.6:c.636+28678_636+28680delinsAGG	ENSP00000440294.2:n.636+28678_636+28680delinsAGG
NM_000138.4:c.1715-329_1715-327delinsAGG , LRG_778t1:c.1715-329_1715-327delinsAGG	NP_000129.3:n.1715-329_1715-327delinsAGG
NM_000138.5:c.1715-329_1715-327delinsAGG MANE Select	NP_000129.3:n.1715-329_1715-327delinsAGG