Canonical Allele Identifier: CA2586964499

Gene: ASPM

Linked Data

• gnomAD v4: 1-197101475-CTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101477_197101480del , CM000663.2:g.197101477_197101480del	GRCh38
NC_000001.10:g.197070607_197070610del , CM000663.1:g.197070607_197070610del	GRCh37
NC_000001.9:g.195337230_195337233del	NCBI36
NG_015867.1:g.50216_50219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5315_2108-5312del
ENST00000367409.9:c.7772_7775del MANE Select	ENSP00000356379.4:p.Lys2591ArgfsTer24
ENST00000680265.1:c.7772_7775del	ENSP00000505384.1:p.Lys2591ArgfsTer24
ENST00000680710.1:c.7772_7775del	ENSP00000506676.1:p.Lys2591ArgfsTer24
ENST00000294732.11:c.4066-5315_4066-5312del	ENSP00000294732.7:n.4066-5315_4066-5312del
ENST00000367408.5:c.1816-5315_1816-5312del	ENSP00000356378.1:n.1816-5315_1816-5312del
ENST00000367409.8:c.7772_7775del	ENSP00000356379.4:p.Lys2591ArgfsTer24
ENST00000612785.1:c.1730_1733del	ENSP00000479244.1:p.Lys577ArgfsTer24
NM_001206846.1:c.4066-5315_4066-5312del	NP_001193775.1:n.4066-5315_4066-5312del
NM_018136.4:c.7772_7775del	NP_060606.3:p.Lys2591ArgfsTer24
NM_018136.5:c.7772_7775del MANE Select	NP_060606.3:p.Lys2591ArgfsTer24
NM_001206846.2:c.4066-5315_4066-5312del	NP_001193775.1:n.4066-5315_4066-5312del