Canonical Allele Identifier: CA2586967836

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101682_197101683del , CM000663.2:g.197101682_197101683del	GRCh38
NC_000001.10:g.197070812_197070813del , CM000663.1:g.197070812_197070813del	GRCh37
NC_000001.9:g.195337435_195337436del	NCBI36
NG_015867.1:g.50013_50014del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-5518_2108-5517del
ENST00000367409.9:c.7569_7570del MANE Select	ENSP00000356379.4:p.Glu2525LysfsTer17
ENST00000680265.1:c.7569_7570del	ENSP00000505384.1:p.Glu2525LysfsTer17
ENST00000680710.1:c.7569_7570del	ENSP00000506676.1:p.Glu2525LysfsTer17
ENST00000294732.11:c.4066-5518_4066-5517del	ENSP00000294732.7:n.4066-5518_4066-5517de...
ENST00000367408.5:c.1816-5518_1816-5517del	ENSP00000356378.1:n.1816-5518_1816-5517de...
ENST00000367409.8:c.7569_7570del	ENSP00000356379.4:p.Glu2525LysfsTer17
ENST00000612785.1:c.1527_1528del	ENSP00000479244.1:p.Glu511LysfsTer17
NM_001206846.1:c.4066-5518_4066-5517del	NP_001193775.1:n.4066-5518_4066-5517del
NM_018136.4:c.7569_7570del	NP_060606.3:p.Glu2525LysfsTer17
NM_018136.5:c.7569_7570del MANE Select	NP_060606.3:p.Glu2525LysfsTer17
NM_001206846.2:c.4066-5518_4066-5517del	NP_001193775.1:n.4066-5518_4066-5517del