Canonical Allele Identifier: CA1217930757
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197103648_197103649delinsCT , CM000663.2:g.197103648_197103649delinsCT GRCh38
NC_000001.10:g.197072778_197072779delinsCT , CM000663.1:g.197072778_197072779delinsCT GRCh37
NC_000001.9:g.195339401_195339402delinsCT NCBI36
NG_015867.1:g.48046_48047delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-7485_2108-7484delinsAG
ENST00000367409.9:c.5602_5603delinsAG MANE Select ENSP00000356379.4:p.Arg1868=
ENST00000680265.1:c.5602_5603delinsAG ENSP00000505384.1:p.Arg1868=
ENST00000680710.1:c.5602_5603delinsAG ENSP00000506676.1:p.Arg1868=
ENST00000294732.11:c.4066-7485_4066-7484delinsAG ENSP00000294732.7:n.4066-7485_4066-7484delinsAG
ENST00000367408.5:c.1816-7485_1816-7484delinsAG ENSP00000356378.1:n.1816-7485_1816-7484delinsAG
ENST00000367409.8:c.5602_5603delinsAG ENSP00000356379.4:p.Arg1868=
ENST00000612785.1:c.562-1002_562-1001delinsAG ENSP00000479244.1:n.562-1002_562-1001delinsAG
NM_001206846.1:c.4066-7485_4066-7484delinsAG NP_001193775.1:n.4066-7485_4066-7484delinsAG
NM_018136.4:c.5602_5603delinsAG NP_060606.3:p.Arg1868=
NM_018136.5:c.5602_5603delinsAG MANE Select NP_060606.3:p.Arg1868=
NM_001206846.2:c.4066-7485_4066-7484delinsAG NP_001193775.1:n.4066-7485_4066-7484delinsAG