Canonical Allele Identifier: CA1148224837

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197125160_197125162delinsCCC , CM000663.2:g.197125160_197125162delinsCCC	GRCh38
NC_000001.10:g.197094290_197094292delinsCCC , CM000663.1:g.197094290_197094292delinsCCC	GRCh37
NC_000001.9:g.195360913_195360915delinsCCC	NCBI36
NG_015867.1:g.26533_26535delinsGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.918_920delinsGGG
ENST00000367409.9:c.2966_2968delinsGGG MANE Select	ENSP00000356379.4:p.Trp989=
ENST00000680112.1:n.1022_1024delinsGGG
ENST00000680265.1:c.2966_2968delinsGGG	ENSP00000505384.1:p.Trp989=
ENST00000680710.1:c.2966_2968delinsGGG	ENSP00000506676.1:p.Trp989=
ENST00000681879.1:c.2966_2968delinsGGG	ENSP00000505363.1:p.Trp989=
ENST00000294732.11:c.2966_2968delinsGGG	ENSP00000294732.7:p.Trp989=
ENST00000367408.5:c.716_718delinsGGG	ENSP00000356378.1:p.Trp239=
ENST00000367409.8:c.2966_2968delinsGGG	ENSP00000356379.4:p.Trp989=
ENST00000612785.1:c.561+18529_561+18531delinsGGG	ENSP00000479244.1:n.561+18529_561+18531de...
NM_001206846.1:c.2966_2968delinsGGG	NP_001193775.1:p.Trp989=
NM_018136.4:c.2966_2968delinsGGG	NP_060606.3:p.Trp989=
NM_018136.5:c.2966_2968delinsGGG MANE Select	NP_060606.3:p.Trp989=
NM_001206846.2:c.2966_2968delinsGGG	NP_001193775.1:p.Trp989=