Canonical Allele Identifier: CA2175492101

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472585_48472586delinsGC , CM000677.2:g.48472585_48472586delinsGC	GRCh38
NC_000015.9:g.48764782_48764783delinsGC , CM000677.1:g.48764782_48764783delinsGC	GRCh37
NC_000015.8:g.46552074_46552075delinsGC	NCBI36
NG_008805.2:g.178203_178204delinsGC , LRG_778:g.178203_178204delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4301_4302delinsGC	ENSP00000453958.2:p.Gly1434=
ENST00000674301.2:c.4301_4302delinsGC	ENSP00000501333.2:p.Gly1434=
ENST00000683268.1:n.268_269delinsGC
ENST00000684448.1:n.2975_2976delinsGC
ENST00000316623.10:c.4301_4302delinsGC MANE Select	ENSP00000325527.5:p.Gly1434=
ENST00000316623.9:c.4301_4302delinsGC	ENSP00000325527.5:p.Gly1434=
ENST00000537463.6:c.*64_*65delinsGC	ENSP00000440294.2:n.*64_*65delinsGC
NM_000138.4:c.4301_4302delinsGC , LRG_778t1:c.4301_4302delinsGC	NP_000129.3:p.Gly1434=
NM_000138.5:c.4301_4302delinsGC MANE Select	NP_000129.3:p.Gly1434=