Canonical Allele Identifier: CA1143355823

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122237_197122238delinsCC , CM000663.2:g.197122237_197122238delinsCC	GRCh38
NC_000001.10:g.197091367_197091368delinsCC , CM000663.1:g.197091367_197091368delinsCC	GRCh37
NC_000001.9:g.195357990_195357991delinsCC	NCBI36
NG_015867.1:g.29457_29458delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1704_1705delinsGG
ENST00000367409.9:c.3662_3663delinsGG MANE Select	ENSP00000356379.4:p.Arg1221=
ENST00000680112.1:n.1718_1719delinsGG
ENST00000680265.1:c.3662_3663delinsGG	ENSP00000505384.1:p.Arg1221=
ENST00000680710.1:c.3662_3663delinsGG	ENSP00000506676.1:p.Arg1221=
ENST00000681879.1:c.3662_3663delinsGG	ENSP00000505363.1:p.Arg1221=
ENST00000294732.11:c.3662_3663delinsGG	ENSP00000294732.7:p.Arg1221=
ENST00000367408.5:c.1412_1413delinsGG	ENSP00000356378.1:p.Arg471=
ENST00000367409.8:c.3662_3663delinsGG	ENSP00000356379.4:p.Arg1221=
ENST00000612785.1:c.562-19591_562-19590delinsGG	ENSP00000479244.1:n.562-19591_562-19590delinsGG
NM_001206846.1:c.3662_3663delinsGG	NP_001193775.1:p.Arg1221=
NM_018136.4:c.3662_3663delinsGG	NP_060606.3:p.Arg1221=
NM_018136.5:c.3662_3663delinsGG MANE Select	NP_060606.3:p.Arg1221=
NM_001206846.2:c.3662_3663delinsGG	NP_001193775.1:p.Arg1221=