Canonical Allele Identifier: CA2580061830

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2021008
• ClinVar RCV Id: RCV002862328

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102467_197102468delinsAA , CM000663.2:g.197102467_197102468delinsAA	GRCh38
NC_000001.10:g.197071597_197071598delinsAA , CM000663.1:g.197071597_197071598delinsAA	GRCh37
NC_000001.9:g.195338220_195338221delinsAA	NCBI36
NG_015867.1:g.49227_49228delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6304_2108-6303delinsTT
ENST00000367409.9:c.6783_6784delinsTT MANE Select	ENSP00000356379.4:p.Met2261_Met2262delinsIleLeu
ENST00000680265.1:c.6783_6784delinsTT	ENSP00000505384.1:p.Met2261_Met2262delinsIleLeu
ENST00000680710.1:c.6783_6784delinsTT	ENSP00000506676.1:p.Met2261_Met2262delinsIleLeu
ENST00000294732.11:c.4066-6304_4066-6303delinsTT	ENSP00000294732.7:n.4066-6304_4066-6303delinsTT
ENST00000367408.5:c.1816-6304_1816-6303delinsTT	ENSP00000356378.1:n.1816-6304_1816-6303delinsTT
ENST00000367409.8:c.6783_6784delinsTT	ENSP00000356379.4:p.Met2261_Met2262delinsIleLeu
ENST00000612785.1:c.741_742delinsTT	ENSP00000479244.1:p.Met247_Met248delinsIleLeu
NM_001206846.1:c.4066-6304_4066-6303delinsTT	NP_001193775.1:n.4066-6304_4066-6303delinsTT
NM_018136.4:c.6783_6784delinsTT	NP_060606.3:p.Met2261_Met2262delinsIleLeu
NM_018136.5:c.6783_6784delinsTT MANE Select	NP_060606.3:p.Met2261_Met2262delinsIleLeu
NM_001206846.2:c.4066-6304_4066-6303delinsTT	NP_001193775.1:n.4066-6304_4066-6303delinsTT