Canonical Allele Identifier: CA1217947780

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197146364dup , CM000663.2:g.197146364dup	GRCh38
NC_000001.10:g.197115494dup , CM000663.1:g.197115494dup	GRCh37
NC_000001.9:g.195382117dup	NCBI36
NG_015867.1:g.5334dup

Transcript Alleles

HGVS	Amino-acid Change
NM_018136.5:c.77dup MANE Select	NP_060606.3:p.Ala28ArgfsTer?
ENST00000367409.9:c.77dup MANE Select	ENSP00000356379.4:p.Ala28ArgfsTer?
NM_001206846.1:c.77dup	NP_001193775.1:p.Ala28ArgfsTer?
NM_001206846.2:c.77dup	NP_001193775.1:p.Ala28ArgfsTer?
NM_018136.4:c.77dup	NP_060606.3:p.Ala28ArgfsTer?
ENST00000294732.11:c.77dup	ENSP00000294732.7:p.Ala28ArgfsTer?
ENST00000367409.8:c.77dup	ENSP00000356379.4:p.Ala28ArgfsTer?
ENST00000612785.1:c.77dup	ENSP00000479244.1:p.Ala28ArgfsTer?
ENST00000679766.1:n.294dup
ENST00000680265.1:c.77dup	ENSP00000505384.1:p.Ala28ArgfsTer?
ENST00000680710.1:c.77dup	ENSP00000506676.1:p.Ala28ArgfsTer?
ENST00000681879.1:c.77dup	ENSP00000505363.1:p.Ala28ArgfsTer?