Canonical Allele Identifier: CA1217930852

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103880del , CM000663.2:g.197103880del	GRCh38
NC_000001.10:g.197073010del , CM000663.1:g.197073010del	GRCh37
NC_000001.9:g.195339633del	NCBI36
NG_015867.1:g.47815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7716del
ENST00000367409.9:c.5371del MANE Select	ENSP00000356379.4:p.Gln1791ArgfsTer30
ENST00000680265.1:c.5371del	ENSP00000505384.1:p.Gln1791ArgfsTer30
ENST00000680710.1:c.5371del	ENSP00000506676.1:p.Gln1791ArgfsTer30
ENST00000294732.11:c.4066-7716del	ENSP00000294732.7:n.4066-7716del
ENST00000367408.5:c.1816-7716del	ENSP00000356378.1:n.1816-7716del
ENST00000367409.8:c.5371del	ENSP00000356379.4:p.Gln1791ArgfsTer30
ENST00000612785.1:c.562-1233del	ENSP00000479244.1:n.562-1233del
NM_001206846.1:c.4066-7716del	NP_001193775.1:n.4066-7716del
NM_018136.4:c.5371del	NP_060606.3:p.Gln1791ArgfsTer30
NM_018136.5:c.5371del MANE Select	NP_060606.3:p.Gln1791ArgfsTer30
NM_001206846.2:c.4066-7716del	NP_001193775.1:n.4066-7716del