Canonical Allele Identifier: CA2175509995

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48484155_48484160delinsCAAGGG , CM000677.2:g.48484155_48484160delinsCAAGGG	GRCh38
NC_000015.9:g.48776352_48776357delinsCAAGGG , CM000677.1:g.48776352_48776357delinsCAAGGG	GRCh37
NC_000015.8:g.46563644_46563649delinsCAAGGG	NCBI36
NG_008805.2:g.166629_166634delinsCCCTTG , LRG_778:g.166629_166634delinsCCCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-217_3713-212delinsCCCTTG	ENSP00000453958.2:n.3713-217_3713-212delinsCCCTTG
ENST00000674301.2:c.3713-217_3713-212delinsCCCTTG	ENSP00000501333.2:n.3713-217_3713-212delinsCCCTTG
ENST00000684448.1:n.2387-217_2387-212delinsCCCTTG
ENST00000316623.10:c.3713-217_3713-212delinsCCCTTG MANE Select	ENSP00000325527.5:n.3713-217_3713-212delinsCCCTTG
ENST00000316623.9:c.3713-217_3713-212delinsCCCTTG	ENSP00000325527.5:n.3713-217_3713-212delinsCCCTTG
ENST00000537463.6:c.637-9510_637-9505delinsCCCTTG	ENSP00000440294.2:n.637-9510_637-9505delinsCCCTTG
NM_000138.4:c.3713-217_3713-212delinsCCCTTG , LRG_778t1:c.3713-217_3713-212delinsCCCTTG	NP_000129.3:n.3713-217_3713-212delinsCCCTTG
NM_000138.5:c.3713-217_3713-212delinsCCCTTG MANE Select	NP_000129.3:n.3713-217_3713-212delinsCCCTTG