Canonical Allele Identifier: CA2560579400

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432854_48432855del , CM000677.2:g.48432854_48432855del	GRCh38
NC_000015.9:g.48725051_48725052del , CM000677.1:g.48725051_48725052del	GRCh37
NC_000015.8:g.46512343_46512344del	NCBI36
NG_008805.2:g.217936_217937del , LRG_778:g.217936_217937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6739+13_6739+14del	ENSP00000453958.2:n.6739+13_6739+14del
ENST00000674301.2:c.*190+13_*190+14del	ENSP00000501333.2:n.*190+13_*190+14del
ENST00000682170.1:n.348+13_348+14del
ENST00000316623.10:c.6739+13_6739+14del MANE Select	ENSP00000325527.5:n.6739+13_6739+14del
ENST00000674301.1:c.1843+13_1843+14del	ENSP00000501333.1:n.1843+13_1843+14del
ENST00000316623.9:c.6739+13_6739+14del	ENSP00000325527.5:n.6739+13_6739+14del
ENST00000537463.6:c.*2502+13_*2502+14del	ENSP00000440294.2:n.*2502+13_*2502+14del
ENST00000559133.5:c.2046+13_2046+14del
ENST00000560720.1:n.26+13_26+14del
NM_000138.4:c.6739+13_6739+14del , LRG_778t1:c.6739+13_6739+14del	NP_000129.3:n.6739+13_6739+14del
NM_000138.5:c.6739+13_6739+14del MANE Select	NP_000129.3:n.6739+13_6739+14del