Canonical Allele Identifier: CA2574124297

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103731_197103733del , CM000663.2:g.197103731_197103733del	GRCh38
NC_000001.10:g.197072861_197072863del , CM000663.1:g.197072861_197072863del	GRCh37
NC_000001.9:g.195339484_195339486del	NCBI36
NG_015867.1:g.47963_47965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7568_2108-7566del
ENST00000367409.9:c.5519_5521del MANE Select	ENSP00000356379.4:p.Lys1840del
ENST00000680265.1:c.5519_5521del	ENSP00000505384.1:p.Lys1840del
ENST00000680710.1:c.5519_5521del	ENSP00000506676.1:p.Lys1840del
ENST00000294732.11:c.4066-7568_4066-7566del	ENSP00000294732.7:n.4066-7568_4066-7566del
ENST00000367408.5:c.1816-7568_1816-7566del	ENSP00000356378.1:n.1816-7568_1816-7566del
ENST00000367409.8:c.5519_5521del	ENSP00000356379.4:p.Lys1840del
ENST00000612785.1:c.562-1085_562-1083del	ENSP00000479244.1:n.562-1085_562-1083del
NM_001206846.1:c.4066-7568_4066-7566del	NP_001193775.1:n.4066-7568_4066-7566del
NM_018136.4:c.5519_5521del	NP_060606.3:p.Lys1840del
NM_018136.5:c.5519_5521del MANE Select	NP_060606.3:p.Lys1840del
NM_001206846.2:c.4066-7568_4066-7566del	NP_001193775.1:n.4066-7568_4066-7566del