Canonical Allele Identifier: CA1217945211

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142427_197142429delinsGCT , CM000663.2:g.197142427_197142429delinsGCT	GRCh38
NC_000001.10:g.197111557_197111559delinsGCT , CM000663.1:g.197111557_197111559delinsGCT	GRCh37
NC_000001.9:g.195378180_195378182delinsGCT	NCBI36
NG_015867.1:g.9266_9268delinsAGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1823_1825delinsAGC MANE Select	ENSP00000356379.4:p.Glu608=
ENST00000679766.1:n.2040_2042delinsAGC
ENST00000680265.1:c.1823_1825delinsAGC	ENSP00000505384.1:p.Glu608=
ENST00000680710.1:c.1823_1825delinsAGC	ENSP00000506676.1:p.Glu608=
ENST00000681879.1:c.1823_1825delinsAGC	ENSP00000505363.1:p.Glu608=
ENST00000294732.11:c.1823_1825delinsAGC	ENSP00000294732.7:p.Glu608=
ENST00000367409.8:c.1823_1825delinsAGC	ENSP00000356379.4:p.Glu608=
ENST00000612785.1:c.561+1262_561+1264delinsAGC	ENSP00000479244.1:n.561+1262_561+1264deli...
NM_001206846.1:c.1823_1825delinsAGC	NP_001193775.1:p.Glu608=
NM_018136.4:c.1823_1825delinsAGC	NP_060606.3:p.Glu608=
NM_018136.5:c.1823_1825delinsAGC MANE Select	NP_060606.3:p.Glu608=
NM_001206846.2:c.1823_1825delinsAGC	NP_001193775.1:p.Glu608=