Canonical Allele Identifier: CA422806629
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197103636_197103637insT , CM000663.2:g.197103636_197103637insT GRCh38
NC_000001.10:g.197072766_197072767insT , CM000663.1:g.197072766_197072767insT GRCh37
NC_000001.9:g.195339389_195339390insT NCBI36
NG_015867.1:g.48058_48059insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-7473_2108-7472insA
ENST00000367409.9:c.5614_5615insA MANE Select ENSP00000356379.4:p.Leu1872TyrfsTer24
ENST00000680265.1:c.5614_5615insA ENSP00000505384.1:p.Leu1872TyrfsTer24
ENST00000680710.1:c.5614_5615insA ENSP00000506676.1:p.Leu1872TyrfsTer24
ENST00000294732.11:c.4066-7473_4066-7472insA ENSP00000294732.7:n.4066-7473_4066-7472insA
ENST00000367408.5:c.1816-7473_1816-7472insA ENSP00000356378.1:n.1816-7473_1816-7472insA
ENST00000367409.8:c.5614_5615insA ENSP00000356379.4:p.Leu1872TyrfsTer24
ENST00000612785.1:c.562-990_562-989insA ENSP00000479244.1:n.562-990_562-989insA
NM_001206846.1:c.4066-7473_4066-7472insA NP_001193775.1:n.4066-7473_4066-7472insA
NM_018136.4:c.5614_5615insA NP_060606.3:p.Leu1872TyrfsTer24
NM_018136.5:c.5614_5615insA MANE Select NP_060606.3:p.Leu1872TyrfsTer24
NM_001206846.2:c.4066-7473_4066-7472insA NP_001193775.1:n.4066-7473_4066-7472insA