Canonical Allele Identifier: CA1010891698

Gene: ASPM

Linked Data

• dbSNP Id: rs1657156469
• gnomAD v3: 1-197101105-CA-C
• gnomAD v4: 1-197101105-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101107del , CM000663.2:g.197101107del	GRCh38
NC_000001.10:g.197070237del , CM000663.1:g.197070237del	GRCh37
NC_000001.9:g.195336860del	NCBI36
NG_015867.1:g.50589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4942del
ENST00000367409.9:c.8145del MANE Select	ENSP00000356379.4:p.Ile2715MetfsTer14
ENST00000680265.1:c.8145del	ENSP00000505384.1:p.Ile2715MetfsTer14
ENST00000680710.1:c.8145del	ENSP00000506676.1:p.Ile2715MetfsTer14
ENST00000294732.11:c.4066-4942del	ENSP00000294732.7:n.4066-4942del
ENST00000367408.5:c.1816-4942del	ENSP00000356378.1:n.1816-4942del
ENST00000367409.8:c.8145del	ENSP00000356379.4:p.Ile2715MetfsTer14
ENST00000612785.1:c.2103del	ENSP00000479244.1:p.Ile701MetfsTer14
NM_001206846.1:c.4066-4942del	NP_001193775.1:n.4066-4942del
NM_018136.4:c.8145del	NP_060606.3:p.Ile2715MetfsTer14
NM_018136.5:c.8145del MANE Select	NP_060606.3:p.Ile2715MetfsTer14
NM_001206846.2:c.4066-4942del	NP_001193775.1:n.4066-4942del