Canonical Allele Identifier: CA2507772611

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103711_197103712insATGTATG , CM000663.2:g.197103711_197103712insATGTATG	GRCh38
NC_000001.10:g.197072841_197072842insATGTATG , CM000663.1:g.197072841_197072842insATGTATG	GRCh37
NC_000001.9:g.195339464_195339465insATGTATG	NCBI36
NG_015867.1:g.47983_47984insCATACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7548_2108-7547insCATACAT
ENST00000367409.9:c.5539_5540insCATACAT MANE Select	ENSP00000356379.4:p.Val1847AlafsTer22
ENST00000680265.1:c.5539_5540insCATACAT	ENSP00000505384.1:p.Val1847AlafsTer22
ENST00000680710.1:c.5539_5540insCATACAT	ENSP00000506676.1:p.Val1847AlafsTer22
ENST00000294732.11:c.4066-7548_4066-7547insCATACAT	ENSP00000294732.7:n.4066-7548_4066-7547insCATACAT
ENST00000367408.5:c.1816-7548_1816-7547insCATACAT	ENSP00000356378.1:n.1816-7548_1816-7547insCATACAT
ENST00000367409.8:c.5539_5540insCATACAT	ENSP00000356379.4:p.Val1847AlafsTer22
ENST00000612785.1:c.562-1065_562-1064insCATACAT	ENSP00000479244.1:n.562-1065_562-1064insCATACAT
NM_001206846.1:c.4066-7548_4066-7547insCATACAT	NP_001193775.1:n.4066-7548_4066-7547insCATACAT
NM_018136.4:c.5539_5540insCATACAT	NP_060606.3:p.Val1847AlafsTer22
NM_018136.5:c.5539_5540insCATACAT MANE Select	NP_060606.3:p.Val1847AlafsTer22
NM_001206846.2:c.4066-7548_4066-7547insCATACAT	NP_001193775.1:n.4066-7548_4066-7547insCATACAT