Canonical Allele Identifier: CA2555296620

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101186_197101187insTACCCTCCTTTTTTCT , CM000663.2:g.197101186_197101187insTACCCTCCTTTTTTCT	GRCh38
NC_000001.10:g.197070316_197070317insTACCCTCCTTTTTTCT , CM000663.1:g.197070316_197070317insTACCCTCCTTTTTTCT	GRCh37
NC_000001.9:g.195336939_195336940insTACCCTCCTTTTTTCT	NCBI36
NG_015867.1:g.50508_50509insAGAAAAAAGGAGGGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5023_2108-5022insAGAAAAAAGGAGGGTA
ENST00000367409.9:c.8064_8065insAGAAAAAAGGAGGGTA MANE Select	ENSP00000356379.4:p.His2689ArgfsTer24
ENST00000680265.1:c.8064_8065insAGAAAAAAGGAGGGTA	ENSP00000505384.1:p.His2689ArgfsTer24
ENST00000680710.1:c.8064_8065insAGAAAAAAGGAGGGTA	ENSP00000506676.1:p.His2689ArgfsTer24
ENST00000294732.11:c.4066-5023_4066-5022insAGAAAAAAGGAGGGTA	ENSP00000294732.7:n.4066-5023_4066-5022insAGAAAAAAGGAGGGTA
ENST00000367408.5:c.1816-5023_1816-5022insAGAAAAAAGGAGGGTA	ENSP00000356378.1:n.1816-5023_1816-5022insAGAAAAAAGGAGGGTA
ENST00000367409.8:c.8064_8065insAGAAAAAAGGAGGGTA	ENSP00000356379.4:p.His2689ArgfsTer24
ENST00000612785.1:c.2022_2023insAGAAAAAAGGAGGGTA	ENSP00000479244.1:p.His675ArgfsTer24
NM_001206846.1:c.4066-5023_4066-5022insAGAAAAAAGGAGGGTA	NP_001193775.1:n.4066-5023_4066-5022insAGAAAAAAGGAGGGTA
NM_018136.4:c.8064_8065insAGAAAAAAGGAGGGTA	NP_060606.3:p.His2689ArgfsTer24
NM_018136.5:c.8064_8065insAGAAAAAAGGAGGGTA MANE Select	NP_060606.3:p.His2689ArgfsTer24
NM_001206846.2:c.4066-5023_4066-5022insAGAAAAAAGGAGGGTA	NP_001193775.1:n.4066-5023_4066-5022insAGAAAAAAGGAGGGTA