Canonical Allele Identifier: CA2993310737

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142531_197142532insCCCCTC , CM000663.2:g.197142531_197142532insCCCCTC	GRCh38
NC_000001.10:g.197111661_197111662insCCCCTC , CM000663.1:g.197111661_197111662insCCCCTC	GRCh37
NC_000001.9:g.195378284_195378285insCCCCTC	NCBI36
NG_015867.1:g.9163_9164insGAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1720_1721insGAGGGG MANE Select	ENSP00000356379.4:p.Lys574delinsArgGlyGlu
ENST00000679766.1:n.1937_1938insGAGGGG
ENST00000680265.1:c.1720_1721insGAGGGG	ENSP00000505384.1:p.Lys574delinsArgGlyGlu
ENST00000680710.1:c.1720_1721insGAGGGG	ENSP00000506676.1:p.Lys574delinsArgGlyGlu
ENST00000681879.1:c.1720_1721insGAGGGG	ENSP00000505363.1:p.Lys574delinsArgGlyGlu
ENST00000294732.11:c.1720_1721insGAGGGG	ENSP00000294732.7:p.Lys574delinsArgGlyGlu
ENST00000367409.8:c.1720_1721insGAGGGG	ENSP00000356379.4:p.Lys574delinsArgGlyGlu
ENST00000612785.1:c.561+1159_561+1160insGAGGGG	ENSP00000479244.1:n.561+1159_561+1160insGAGGGG
NM_001206846.1:c.1720_1721insGAGGGG	NP_001193775.1:p.Lys574delinsArgGlyGlu
NM_018136.4:c.1720_1721insGAGGGG	NP_060606.3:p.Lys574delinsArgGlyGlu
NM_018136.5:c.1720_1721insGAGGGG MANE Select	NP_060606.3:p.Lys574delinsArgGlyGlu
NM_001206846.2:c.1720_1721insGAGGGG	NP_001193775.1:p.Lys574delinsArgGlyGlu