Canonical Allele Identifier: CA729721065
Gene: ASPM HGNC NCBI

Linked Data

dbSNP Id: rs1223208169

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142035del , CM000663.2:g.197142035del GRCh38
NC_000001.10:g.197111165del , CM000663.1:g.197111165del GRCh37
NC_000001.9:g.195377788del NCBI36
NG_015867.1:g.9660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.1921+296del MANE Select ENSP00000356379.4:n.1921+296del
ENST00000679766.1:n.2138+296del
ENST00000680265.1:c.1921+296del ENSP00000505384.1:n.1921+296del
ENST00000680710.1:c.1921+296del ENSP00000506676.1:n.1921+296del
ENST00000681879.1:c.1921+296del ENSP00000505363.1:n.1921+296del
ENST00000294732.11:c.1921+296del ENSP00000294732.7:n.1921+296del
ENST00000367409.8:c.1921+296del ENSP00000356379.4:n.1921+296del
ENST00000612785.1:c.561+1656del ENSP00000479244.1:n.561+1656del
NM_001206846.1:c.1921+296del NP_001193775.1:n.1921+296del
NM_018136.4:c.1921+296del NP_060606.3:n.1921+296del
NM_018136.5:c.1921+296del MANE Select NP_060606.3:n.1921+296del
NM_001206846.2:c.1921+296del NP_001193775.1:n.1921+296del