Canonical Allele Identifier: CA2175520913

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489533_48489536delinsCCTT , CM000677.2:g.48489533_48489536delinsCCTT	GRCh38
NC_000015.9:g.48781730_48781733delinsCCTT , CM000677.1:g.48781730_48781733delinsCCTT	GRCh37
NC_000015.8:g.46569022_46569025delinsCCTT	NCBI36
NG_008805.2:g.161253_161256delinsAAGG , LRG_778:g.161253_161256delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3082+315_3082+318delinsAAGG	ENSP00000453958.2:n.3082+315_3082+318delinsAAGG
ENST00000674301.2:c.3082+315_3082+318delinsAAGG	ENSP00000501333.2:n.3082+315_3082+318delinsAAGG
ENST00000684448.1:n.1756+315_1756+318delinsAAGG
ENST00000316623.10:c.3082+315_3082+318delinsAAGG MANE Select	ENSP00000325527.5:n.3082+315_3082+318delinsAAGG
ENST00000316623.9:c.3082+315_3082+318delinsAAGG	ENSP00000325527.5:n.3082+315_3082+318delinsAAGG
ENST00000537463.6:c.637-14886_637-14883delinsAAGG	ENSP00000440294.2:n.637-14886_637-14883delinsAAGG
NM_000138.4:c.3082+315_3082+318delinsAAGG , LRG_778t1:c.3082+315_3082+318delinsAAGG	NP_000129.3:n.3082+315_3082+318delinsAAGG
NM_000138.5:c.3082+315_3082+318delinsAAGG MANE Select	NP_000129.3:n.3082+315_3082+318delinsAAGG