Canonical Allele Identifier: CA1217946717

Gene: ASPM

Linked Data

• dbSNP Id: rs1389731932

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143745_197143746insGAAAATAAAATACCCATATC , CM000663.2:g.197143745_197143746insGAAAATAAAATACCCATATC	GRCh38
NC_000001.10:g.197112875_197112876insGAAAATAAAATACCCATATC , CM000663.1:g.197112875_197112876insGAAAATAAAATACCCATATC	GRCh37
NC_000001.9:g.195379498_195379499insGAAAATAAAATACCCATATC	NCBI36
NG_015867.1:g.7949_7950insGATATGGGTATTTTATTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.506_507insGATATGGGTATTTTATTTTC MANE Select	ENSP00000356379.4:p.Ser170IlefsTer?
ENST00000679766.1:n.723_724insGATATGGGTATTTTATTTTC
ENST00000680265.1:c.506_507insGATATGGGTATTTTATTTTC	ENSP00000505384.1:p.Ser170IlefsTer?
ENST00000680710.1:c.506_507insGATATGGGTATTTTATTTTC	ENSP00000506676.1:p.Ser170IlefsTer?
ENST00000681879.1:c.506_507insGATATGGGTATTTTATTTTC	ENSP00000505363.1:p.Ser170IlefsTer?
ENST00000294732.11:c.506_507insGATATGGGTATTTTATTTTC	ENSP00000294732.7:p.Ser170IlefsTer?
ENST00000367409.8:c.506_507insGATATGGGTATTTTATTTTC	ENSP00000356379.4:p.Ser170IlefsTer?
ENST00000612785.1:c.506_507insGATATGGGTATTTTATTTTC	ENSP00000479244.1:p.Ser170IlefsTer36
NM_001206846.1:c.506_507insGATATGGGTATTTTATTTTC	NP_001193775.1:p.Ser170IlefsTer?
NM_018136.4:c.506_507insGATATGGGTATTTTATTTTC	NP_060606.3:p.Ser170IlefsTer?
NM_018136.5:c.506_507insGATATGGGTATTTTATTTTC MANE Select	NP_060606.3:p.Ser170IlefsTer?
NM_001206846.2:c.506_507insGATATGGGTATTTTATTTTC	NP_001193775.1:p.Ser170IlefsTer?