Canonical Allele Identifier: CA2175496606

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434448_48434451delinsAAAG , CM000677.2:g.48434448_48434451delinsAAAG	GRCh38
NC_000015.9:g.48726645_48726648delinsAAAG , CM000677.1:g.48726645_48726648delinsAAAG	GRCh37
NC_000015.8:g.46513937_46513940delinsAAAG	NCBI36
NG_008805.2:g.216338_216341delinsCTTT , LRG_778:g.216338_216341delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+143_6616+146delinsCTTT	ENSP00000453958.2:n.6616+143_6616+146delinsCTTT
ENST00000674301.2:c.6616+143_6616+146delinsCTTT	ENSP00000501333.2:n.6616+143_6616+146delinsCTTT
ENST00000682170.1:n.225+143_225+146delinsCTTT
ENST00000316623.10:c.6616+143_6616+146delinsCTTT MANE Select	ENSP00000325527.5:n.6616+143_6616+146delinsCTTT
ENST00000674301.1:c.1615+143_1615+146delinsCTTT	ENSP00000501333.1:n.1615+143_1615+146delinsCTTT
ENST00000316623.9:c.6616+143_6616+146delinsCTTT	ENSP00000325527.5:n.6616+143_6616+146delinsCTTT
ENST00000537463.6:c.*2379+143_*2379+146delinsCTTT	ENSP00000440294.2:n.*2379+143_*2379+146delinsCTTT
ENST00000559133.5:c.1923+143_1923+146delinsCTTT
NM_000138.4:c.6616+143_6616+146delinsCTTT , LRG_778t1:c.6616+143_6616+146delinsCTTT	NP_000129.3:n.6616+143_6616+146delinsCTTT
NM_000138.5:c.6616+143_6616+146delinsCTTT MANE Select	NP_000129.3:n.6616+143_6616+146delinsCTTT