Canonical Allele Identifier: CA1217929812

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101118_197101120delinsCTT , CM000663.2:g.197101118_197101120delinsCTT	GRCh38
NC_000001.10:g.197070248_197070250delinsCTT , CM000663.1:g.197070248_197070250delinsCTT	GRCh37
NC_000001.9:g.195336871_195336873delinsCTT	NCBI36
NG_015867.1:g.50575_50577delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4956_2108-4954delinsAAG
ENST00000367409.9:c.8131_8133delinsAAG MANE Select	ENSP00000356379.4:p.Lys2711=
ENST00000680265.1:c.8131_8133delinsAAG	ENSP00000505384.1:p.Lys2711=
ENST00000680710.1:c.8131_8133delinsAAG	ENSP00000506676.1:p.Lys2711=
ENST00000294732.11:c.4066-4956_4066-4954delinsAAG	ENSP00000294732.7:n.4066-4956_4066-4954delinsAAG
ENST00000367408.5:c.1816-4956_1816-4954delinsAAG	ENSP00000356378.1:n.1816-4956_1816-4954delinsAAG
ENST00000367409.8:c.8131_8133delinsAAG	ENSP00000356379.4:p.Lys2711=
ENST00000612785.1:c.2089_2091delinsAAG	ENSP00000479244.1:p.Lys697=
NM_001206846.1:c.4066-4956_4066-4954delinsAAG	NP_001193775.1:n.4066-4956_4066-4954delinsAAG
NM_018136.4:c.8131_8133delinsAAG	NP_060606.3:p.Lys2711=
NM_018136.5:c.8131_8133delinsAAG MANE Select	NP_060606.3:p.Lys2711=
NM_001206846.2:c.4066-4956_4066-4954delinsAAG	NP_001193775.1:n.4066-4956_4066-4954delinsAAG