Canonical Allele Identifier: CA1217930404

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102732_197102735delinsAAGG , CM000663.2:g.197102732_197102735delinsAAGG	GRCh38
NC_000001.10:g.197071862_197071865delinsAAGG , CM000663.1:g.197071862_197071865delinsAAGG	GRCh37
NC_000001.9:g.195338485_195338488delinsAAGG	NCBI36
NG_015867.1:g.48960_48963delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6571_2108-6568delinsCCTT
ENST00000367409.9:c.6516_6519delinsCCTT MANE Select	ENSP00000356379.4:p.Val2172=
ENST00000680265.1:c.6516_6519delinsCCTT	ENSP00000505384.1:p.Val2172=
ENST00000680710.1:c.6516_6519delinsCCTT	ENSP00000506676.1:p.Val2172=
ENST00000294732.11:c.4066-6571_4066-6568delinsCCTT	ENSP00000294732.7:n.4066-6571_4066-6568delinsCCTT
ENST00000367408.5:c.1816-6571_1816-6568delinsCCTT	ENSP00000356378.1:n.1816-6571_1816-6568delinsCCTT
ENST00000367409.8:c.6516_6519delinsCCTT	ENSP00000356379.4:p.Val2172=
ENST00000612785.1:c.562-88_562-85delinsCCTT	ENSP00000479244.1:n.562-88_562-85delinsCCTT
NM_001206846.1:c.4066-6571_4066-6568delinsCCTT	NP_001193775.1:n.4066-6571_4066-6568delinsCCTT
NM_018136.4:c.6516_6519delinsCCTT	NP_060606.3:p.Val2172=
NM_018136.5:c.6516_6519delinsCCTT MANE Select	NP_060606.3:p.Val2172=
NM_001206846.2:c.4066-6571_4066-6568delinsCCTT	NP_001193775.1:n.4066-6571_4066-6568delinsCCTT