Canonical Allele Identifier: CA2175529321

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508798_48508799delinsTC , CM000677.2:g.48508798_48508799delinsTC	GRCh38
NC_000015.9:g.48800995_48800996delinsTC , CM000677.1:g.48800995_48800996delinsTC	GRCh37
NC_000015.8:g.46588287_46588288delinsTC	NCBI36
NG_008805.2:g.141990_141991delinsGA , LRG_778:g.141990_141991delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1715-95_1715-94delinsGA	ENSP00000453958.2:n.1715-95_1715-94delinsGA
ENST00000674301.2:c.1715-95_1715-94delinsGA	ENSP00000501333.2:n.1715-95_1715-94delinsGA
ENST00000684448.1:n.389-95_389-94delinsGA
ENST00000316623.10:c.1715-95_1715-94delinsGA MANE Select	ENSP00000325527.5:n.1715-95_1715-94delinsGA
ENST00000316623.9:c.1715-95_1715-94delinsGA	ENSP00000325527.5:n.1715-95_1715-94delinsGA
ENST00000537463.6:c.636+28912_636+28913delinsGA	ENSP00000440294.2:n.636+28912_636+28913delinsGA
NM_000138.4:c.1715-95_1715-94delinsGA , LRG_778t1:c.1715-95_1715-94delinsGA	NP_000129.3:n.1715-95_1715-94delinsGA
NM_000138.5:c.1715-95_1715-94delinsGA MANE Select	NP_000129.3:n.1715-95_1715-94delinsGA