Canonical Allele Identifier: CA2747232154

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142837_197142838insCCAAACACACCCAACAC , CM000663.2:g.197142837_197142838insCCAAACACACCCAACAC	GRCh38
NC_000001.10:g.197111967_197111968insCCAAACACACCCAACAC , CM000663.1:g.197111967_197111968insCCAAACACACCCAACAC	GRCh37
NC_000001.9:g.195378590_195378591insCCAAACACACCCAACAC	NCBI36
NG_015867.1:g.8857_8858insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1414_1415insGTGTTGGGTGTGTTTGG MANE Select	ENSP00000356379.4:p.Phe472CysfsTer?
ENST00000679766.1:n.1631_1632insGTGTTGGGTGTGTTTGG
ENST00000680265.1:c.1414_1415insGTGTTGGGTGTGTTTGG	ENSP00000505384.1:p.Phe472CysfsTer?
ENST00000680710.1:c.1414_1415insGTGTTGGGTGTGTTTGG	ENSP00000506676.1:p.Phe472CysfsTer?
ENST00000681879.1:c.1414_1415insGTGTTGGGTGTGTTTGG	ENSP00000505363.1:p.Phe472CysfsTer?
ENST00000294732.11:c.1414_1415insGTGTTGGGTGTGTTTGG	ENSP00000294732.7:p.Phe472CysfsTer?
ENST00000367409.8:c.1414_1415insGTGTTGGGTGTGTTTGG	ENSP00000356379.4:p.Phe472CysfsTer?
ENST00000612785.1:c.561+853_561+854insGTGTTGGGTGTGTTTGG	ENSP00000479244.1:n.561+853_561+854insGTGTTGGGTGTGTTTGG
NM_001206846.1:c.1414_1415insGTGTTGGGTGTGTTTGG	NP_001193775.1:p.Phe472CysfsTer?
NM_018136.4:c.1414_1415insGTGTTGGGTGTGTTTGG	NP_060606.3:p.Phe472CysfsTer?
NM_018136.5:c.1414_1415insGTGTTGGGTGTGTTTGG MANE Select	NP_060606.3:p.Phe472CysfsTer?
NM_001206846.2:c.1414_1415insGTGTTGGGTGTGTTTGG	NP_001193775.1:p.Phe472CysfsTer?