Canonical Allele Identifier: CA2175524495

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492651_48492653delinsCAT , CM000677.2:g.48492651_48492653delinsCAT	GRCh38
NC_000015.9:g.48784848_48784850delinsCAT , CM000677.1:g.48784848_48784850delinsCAT	GRCh37
NC_000015.8:g.46572140_46572142delinsCAT	NCBI36
NG_008805.2:g.158136_158138delinsATG , LRG_778:g.158136_158138delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2729-67_2729-65delinsATG	ENSP00000453958.2:n.2729-67_2729-65delinsATG
ENST00000674301.2:c.2729-67_2729-65delinsATG	ENSP00000501333.2:n.2729-67_2729-65delinsATG
ENST00000684448.1:n.1403-67_1403-65delinsATG
ENST00000316623.10:c.2729-67_2729-65delinsATG MANE Select	ENSP00000325527.5:n.2729-67_2729-65delinsATG
ENST00000316623.9:c.2729-67_2729-65delinsATG	ENSP00000325527.5:n.2729-67_2729-65delinsATG
ENST00000537463.6:c.637-18003_637-18001delinsATG	ENSP00000440294.2:n.637-18003_637-18001delinsATG
NM_000138.4:c.2729-67_2729-65delinsATG , LRG_778t1:c.2729-67_2729-65delinsATG	NP_000129.3:n.2729-67_2729-65delinsATG
NM_000138.5:c.2729-67_2729-65delinsATG MANE Select	NP_000129.3:n.2729-67_2729-65delinsATG