Canonical Allele Identifier: CA2175526884

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48504180_48504181delinsGT , CM000677.2:g.48504180_48504181delinsGT	GRCh38
NC_000015.9:g.48796377_48796378delinsGT , CM000677.1:g.48796377_48796378delinsGT	GRCh37
NC_000015.8:g.46583669_46583670delinsGT	NCBI36
NG_008805.2:g.146608_146609delinsAC , LRG_778:g.146608_146609delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1961-242_1961-241delinsAC	ENSP00000453958.2:n.1961-242_1961-241delinsAC
ENST00000674301.2:c.1961-242_1961-241delinsAC	ENSP00000501333.2:n.1961-242_1961-241delinsAC
ENST00000684448.1:n.635-242_635-241delinsAC
ENST00000316623.10:c.1961-242_1961-241delinsAC MANE Select	ENSP00000325527.5:n.1961-242_1961-241delinsAC
ENST00000316623.9:c.1961-242_1961-241delinsAC	ENSP00000325527.5:n.1961-242_1961-241delinsAC
ENST00000537463.6:c.637-29531_637-29530delinsAC	ENSP00000440294.2:n.637-29531_637-29530delinsAC
NM_000138.4:c.1961-242_1961-241delinsAC , LRG_778t1:c.1961-242_1961-241delinsAC	NP_000129.3:n.1961-242_1961-241delinsAC
NM_000138.5:c.1961-242_1961-241delinsAC MANE Select	NP_000129.3:n.1961-242_1961-241delinsAC