Canonical Allele Identifier: CA2586964478

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100619_197100620del , CM000663.2:g.197100619_197100620del	GRCh38
NC_000001.10:g.197069749_197069750del , CM000663.1:g.197069749_197069750del	GRCh37
NC_000001.9:g.195336372_195336373del	NCBI36
NG_015867.1:g.51076_51077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4455_2108-4454del
ENST00000367409.9:c.8632_8633del MANE Select	ENSP00000356379.4:p.Gln2878ValfsTer5
ENST00000680265.1:c.8632_8633del	ENSP00000505384.1:p.Gln2878ValfsTer5
ENST00000680710.1:c.8632_8633del	ENSP00000506676.1:p.Gln2878ValfsTer5
ENST00000294732.11:c.4066-4455_4066-4454del	ENSP00000294732.7:n.4066-4455_4066-4454del
ENST00000367408.5:c.1816-4455_1816-4454del	ENSP00000356378.1:n.1816-4455_1816-4454del
ENST00000367409.8:c.8632_8633del	ENSP00000356379.4:p.Gln2878ValfsTer5
ENST00000612785.1:c.2590_2591del	ENSP00000479244.1:p.Gln864ValfsTer5
NM_001206846.1:c.4066-4455_4066-4454del	NP_001193775.1:n.4066-4455_4066-4454del
NM_018136.4:c.8632_8633del	NP_060606.3:p.Gln2878ValfsTer5
NM_018136.5:c.8632_8633del MANE Select	NP_060606.3:p.Gln2878ValfsTer5
NM_001206846.2:c.4066-4455_4066-4454del	NP_001193775.1:n.4066-4455_4066-4454del