Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51057968_51057970delinsCTG , CM000680.2:g.51057968_51057970delinsCTG	GRCh38
NC_000018.9:g.48584338_48584340delinsCTG , CM000680.1:g.48584338_48584340delinsCTG	GRCh37
NC_000018.8:g.46838336_46838338delinsCTG	NCBI36
NG_013013.2:g.94929_94931delinsCTG , LRG_318:g.94929_94931delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.668-157_668-155delinsCTG	ENSP00000465878.2:n.668-157_668-155delinsCTG
ENST00000589076.6:c.668-157_668-155delinsCTG	ENSP00000466934.2:n.668-157_668-155delinsCTG
ENST00000589941.2:c.668-157_668-155delinsCTG	ENSP00000465874.2:n.668-157_668-155delinsCTG
ENST00000590061.2:c.668-157_668-155delinsCTG	ENSP00000464772.2:n.668-157_668-155delinsCTG
ENST00000593223.2:c.668-157_668-155delinsCTG	ENSP00000466118.2:n.668-157_668-155delinsCTG
ENST00000611848.2:c.668-157_668-155delinsCTG	ENSP00000478613.2:n.668-157_668-155delinsCTG
ENST00000684953.1:n.2040-157_2040-155delinsCTG
ENST00000685232.1:n.619_621delinsCTG
ENST00000688307.1:n.156-1898_156-1896delinsCTG
ENST00000688574.1:n.619_621delinsCTG
ENST00000688903.1:n.725_727delinsCTG
ENST00000690892.1:n.619_621delinsCTG
ENST00000342988.8:c.668-157_668-155delinsCTG MANE Select	ENSP00000341551.3:n.668-157_668-155delinsCTG
ENST00000342988.7:c.668-157_668-155delinsCTG	ENSP00000341551.3:n.668-157_668-155delinsCTG
ENST00000398417.6:c.668-157_668-155delinsCTG	ENSP00000381452.1:n.668-157_668-155delinsCTG
ENST00000588745.5:c.667+2975_667+2977delinsCTG	ENSP00000464901.1:n.667+2975_667+2977delinsCTG
ENST00000590722.2:c.844-157_844-155delinsCTG	ENSP00000465737.1:n.844-157_844-155delinsCTG
ENST00000591126.5:n.2669-157_2669-155delinsCTG
ENST00000592186.5:c.668-157_668-155delinsCTG	ENSP00000468611.1:n.668-157_668-155delinsCTG
ENST00000592911.5:n.446-157_446-155delinsCTG
NM_005359.5:c.668-157_668-155delinsCTG , LRG_318t1:c.668-157_668-155delinsCTG	NP_005350.1:n.668-157_668-155delinsCTG
NM_005359.6:c.668-157_668-155delinsCTG MANE Select	NP_005350.1:n.668-157_668-155delinsCTG