Canonical Allele Identifier: CA1217946520
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142280_197142298delinsAAGTATCCCCTTTACAGGT , CM000663.2:g.197142280_197142298delinsAAGTATCCCCTTTACAGGT GRCh38
NC_000001.10:g.197111410_197111428delinsAAGTATCCCCTTTACAGGT , CM000663.1:g.197111410_197111428delinsAAGTATCCCCTTTACAGGT GRCh37
NC_000001.9:g.195378033_195378051delinsAAGTATCCCCTTTACAGGT NCBI36
NG_015867.1:g.9397_9415delinsACCTGTAAAGGGGATACTT

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.1921+33_1921+51delinsACCTGTAAAGGGGATACTT MANE Select ENSP00000356379.4:n.1921+33_1921+51delinsACCTGTAAAGGGGATACTT
ENST00000679766.1:n.2138+33_2138+51delinsACCTGTAAAGGGGATACTT
ENST00000680265.1:c.1921+33_1921+51delinsACCTGTAAAGGGGATACTT ENSP00000505384.1:n.1921+33_1921+51delinsACCTGTAAAGGGGATACTT
ENST00000680710.1:c.1921+33_1921+51delinsACCTGTAAAGGGGATACTT ENSP00000506676.1:n.1921+33_1921+51delinsACCTGTAAAGGGGATACTT
ENST00000681879.1:c.1921+33_1921+51delinsACCTGTAAAGGGGATACTT ENSP00000505363.1:n.1921+33_1921+51delinsACCTGTAAAGGGGATACTT
ENST00000294732.11:c.1921+33_1921+51delinsACCTGTAAAGGGGATACTT ENSP00000294732.7:n.1921+33_1921+51delinsACCTGTAAAGGGGATACTT
ENST00000367409.8:c.1921+33_1921+51delinsACCTGTAAAGGGGATACTT ENSP00000356379.4:n.1921+33_1921+51delinsACCTGTAAAGGGGATACTT
ENST00000612785.1:c.561+1393_561+1411delinsACCTGTAAAGGGGATACTT ENSP00000479244.1:n.561+1393_561+1411delinsACCTGTAAAGGGGATACT...
NM_001206846.1:c.1921+33_1921+51delinsACCTGTAAAGGGGATACTT NP_001193775.1:n.1921+33_1921+51delinsACCTGTAAAGGGGATACTT
NM_018136.4:c.1921+33_1921+51delinsACCTGTAAAGGGGATACTT NP_060606.3:n.1921+33_1921+51delinsACCTGTAAAGGGGATACTT
NM_018136.5:c.1921+33_1921+51delinsACCTGTAAAGGGGATACTT MANE Select NP_060606.3:n.1921+33_1921+51delinsACCTGTAAAGGGGATACTT
NM_001206846.2:c.1921+33_1921+51delinsACCTGTAAAGGGGATACTT NP_001193775.1:n.1921+33_1921+51delinsACCTGTAAAGGGGATACTT