Canonical Allele Identifier: CA2649661718

Gene: ASPM

Linked Data

• gnomAD v4: 1-197101133-AACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101134_197101137del , CM000663.2:g.197101134_197101137del	GRCh38
NC_000001.10:g.197070264_197070267del , CM000663.1:g.197070264_197070267del	GRCh37
NC_000001.9:g.195336887_195336890del	NCBI36
NG_015867.1:g.50558_50561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4973_2108-4970del
ENST00000367409.9:c.8114_8117del MANE Select	ENSP00000356379.4:p.Lys2705MetfsTer23
ENST00000680265.1:c.8114_8117del	ENSP00000505384.1:p.Lys2705MetfsTer23
ENST00000680710.1:c.8114_8117del	ENSP00000506676.1:p.Lys2705MetfsTer23
ENST00000294732.11:c.4066-4973_4066-4970del	ENSP00000294732.7:n.4066-4973_4066-4970del
ENST00000367408.5:c.1816-4973_1816-4970del	ENSP00000356378.1:n.1816-4973_1816-4970del
ENST00000367409.8:c.8114_8117del	ENSP00000356379.4:p.Lys2705MetfsTer23
ENST00000612785.1:c.2072_2075del	ENSP00000479244.1:p.Lys691MetfsTer23
NM_001206846.1:c.4066-4973_4066-4970del	NP_001193775.1:n.4066-4973_4066-4970del
NM_018136.4:c.8114_8117del	NP_060606.3:p.Lys2705MetfsTer23
NM_018136.5:c.8114_8117del MANE Select	NP_060606.3:p.Lys2705MetfsTer23
NM_001206846.2:c.4066-4973_4066-4970del	NP_001193775.1:n.4066-4973_4066-4970del