Canonical Allele Identifier: CA2649661865

Gene: ASPM

Linked Data

• gnomAD v4: 1-197104722-CTTCTTTTATATAACTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104723_197104740del , CM000663.2:g.197104723_197104740del	GRCh38
NC_000001.10:g.197073853_197073870del , CM000663.1:g.197073853_197073870del	GRCh37
NC_000001.9:g.195340476_195340493del	NCBI36
NG_015867.1:g.46955_46972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-8576_2108-8559del
ENST00000367409.9:c.4511_4528del MANE Select	ENSP00000356379.4:p.Gln1504_Arg1509del
ENST00000680265.1:c.4511_4528del	ENSP00000505384.1:p.Gln1504_Arg1509del
ENST00000680710.1:c.4511_4528del	ENSP00000506676.1:p.Gln1504_Arg1509del
ENST00000681879.1:c.4559_4576del	ENSP00000505363.1:n.4559_4576del
ENST00000294732.11:c.4066-8576_4066-8559del	ENSP00000294732.7:n.4066-8576_4066-8559del
ENST00000367408.5:c.1816-8576_1816-8559del	ENSP00000356378.1:n.1816-8576_1816-8559del
ENST00000367409.8:c.4511_4528del	ENSP00000356379.4:p.Gln1504_Arg1509del
ENST00000612785.1:c.562-2093_562-2076del	ENSP00000479244.1:n.562-2093_562-2076del
NM_001206846.1:c.4066-8576_4066-8559del	NP_001193775.1:n.4066-8576_4066-8559del
NM_018136.4:c.4511_4528del	NP_060606.3:p.Gln1504_Arg1509del
NM_018136.5:c.4511_4528del MANE Select	NP_060606.3:p.Gln1504_Arg1509del
NM_001206846.2:c.4066-8576_4066-8559del	NP_001193775.1:n.4066-8576_4066-8559del