Canonical Allele Identifier: CA2175529429

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48509043_48509044delinsAT , CM000677.2:g.48509043_48509044delinsAT	GRCh38
NC_000015.9:g.48801240_48801241delinsAT , CM000677.1:g.48801240_48801241delinsAT	GRCh37
NC_000015.8:g.46588532_46588533delinsAT	NCBI36
NG_008805.2:g.141745_141746delinsAT , LRG_778:g.141745_141746delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1715-340_1715-339delinsAT	ENSP00000453958.2:n.1715-340_1715-339delinsAT
ENST00000674301.2:c.1715-340_1715-339delinsAT	ENSP00000501333.2:n.1715-340_1715-339delinsAT
ENST00000684448.1:n.389-340_389-339delinsAT
ENST00000316623.10:c.1715-340_1715-339delinsAT MANE Select	ENSP00000325527.5:n.1715-340_1715-339delinsAT
ENST00000316623.9:c.1715-340_1715-339delinsAT	ENSP00000325527.5:n.1715-340_1715-339delinsAT
ENST00000537463.6:c.636+28667_636+28668delinsAT	ENSP00000440294.2:n.636+28667_636+28668delinsAT
NM_000138.4:c.1715-340_1715-339delinsAT , LRG_778t1:c.1715-340_1715-339delinsAT	NP_000129.3:n.1715-340_1715-339delinsAT
NM_000138.5:c.1715-340_1715-339delinsAT MANE Select	NP_000129.3:n.1715-340_1715-339delinsAT