Canonical Allele Identifier: CA2837995374

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48513618_48513619insCA , CM000677.2:g.48513618_48513619insCA	GRCh38
NC_000015.9:g.48805815_48805816insCA , CM000677.1:g.48805815_48805816insCA	GRCh37
NC_000015.8:g.46593107_46593108insCA	NCBI36
NG_008805.2:g.137170_137171insTG , LRG_778:g.137170_137171insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1518_1519insTG	ENSP00000453958.2:p.Asn507Ter
ENST00000674301.2:c.1518_1519insTG	ENSP00000501333.2:p.Asn507Ter
ENST00000684448.1:n.192_193insTG
ENST00000316623.10:c.1518_1519insTG MANE Select	ENSP00000325527.5:p.Asn507Ter
ENST00000316623.9:c.1518_1519insTG	ENSP00000325527.5:p.Asn507Ter
ENST00000537463.6:c.636+24092_636+24093insTG	ENSP00000440294.2:n.636+24092_636+24093insTG
NM_000138.4:c.1518_1519insTG , LRG_778t1:c.1518_1519insTG	NP_000129.3:p.Asn507Ter
NM_000138.5:c.1518_1519insTG MANE Select	NP_000129.3:p.Asn507Ter