Canonical Allele Identifier: CA2175526837

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48504091_48504092delinsTA , CM000677.2:g.48504091_48504092delinsTA	GRCh38
NC_000015.9:g.48796288_48796289delinsTA , CM000677.1:g.48796288_48796289delinsTA	GRCh37
NC_000015.8:g.46583580_46583581delinsTA	NCBI36
NG_008805.2:g.146697_146698delinsTA , LRG_778:g.146697_146698delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1961-153_1961-152delinsTA	ENSP00000453958.2:n.1961-153_1961-152delinsTA
ENST00000674301.2:c.1961-153_1961-152delinsTA	ENSP00000501333.2:n.1961-153_1961-152delinsTA
ENST00000684448.1:n.635-153_635-152delinsTA
ENST00000316623.10:c.1961-153_1961-152delinsTA MANE Select	ENSP00000325527.5:n.1961-153_1961-152delinsTA
ENST00000316623.9:c.1961-153_1961-152delinsTA	ENSP00000325527.5:n.1961-153_1961-152delinsTA
ENST00000537463.6:c.637-29442_637-29441delinsTA	ENSP00000440294.2:n.637-29442_637-29441delinsTA
NM_000138.4:c.1961-153_1961-152delinsTA , LRG_778t1:c.1961-153_1961-152delinsTA	NP_000129.3:n.1961-153_1961-152delinsTA
NM_000138.5:c.1961-153_1961-152delinsTA MANE Select	NP_000129.3:n.1961-153_1961-152delinsTA