Canonical Allele Identifier: CA1217930025

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101676_197101678delinsTTC , CM000663.2:g.197101676_197101678delinsTTC	GRCh38
NC_000001.10:g.197070806_197070808delinsTTC , CM000663.1:g.197070806_197070808delinsTTC	GRCh37
NC_000001.9:g.195337429_195337431delinsTTC	NCBI36
NG_015867.1:g.50017_50019delinsGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-5514_2108-5512delinsGAA
ENST00000367409.9:c.7573_7575delinsGAA MANE Select	ENSP00000356379.4:p.Glu2525=
ENST00000680265.1:c.7573_7575delinsGAA	ENSP00000505384.1:p.Glu2525=
ENST00000680710.1:c.7573_7575delinsGAA	ENSP00000506676.1:p.Glu2525=
ENST00000294732.11:c.4066-5514_4066-5512delinsGAA	ENSP00000294732.7:n.4066-5514_4066-5512de...
ENST00000367408.5:c.1816-5514_1816-5512delinsGAA	ENSP00000356378.1:n.1816-5514_1816-5512de...
ENST00000367409.8:c.7573_7575delinsGAA	ENSP00000356379.4:p.Glu2525=
ENST00000612785.1:c.1531_1533delinsGAA	ENSP00000479244.1:p.Glu511=
NM_001206846.1:c.4066-5514_4066-5512delinsGAA	NP_001193775.1:n.4066-5514_4066-5512delin...
NM_018136.4:c.7573_7575delinsGAA	NP_060606.3:p.Glu2525=
NM_018136.5:c.7573_7575delinsGAA MANE Select	NP_060606.3:p.Glu2525=
NM_001206846.2:c.4066-5514_4066-5512delinsGAA	NP_001193775.1:n.4066-5514_4066-5512delin...