Canonical Allele Identifier: CA2649661694

Gene: ASPM

Linked Data

• dbSNP Id: rs2125095201
• gnomAD v4: 1-197102978-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102980_197102981del , CM000663.2:g.197102980_197102981del	GRCh38
NC_000001.10:g.197072110_197072111del , CM000663.1:g.197072110_197072111del	GRCh37
NC_000001.9:g.195338733_195338734del	NCBI36
NG_015867.1:g.48715_48716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6816_2108-6815del
ENST00000367409.9:c.6271_6272del MANE Select	ENSP00000356379.4:p.Leu2091Ter
ENST00000680265.1:c.6271_6272del	ENSP00000505384.1:p.Leu2091Ter
ENST00000680710.1:c.6271_6272del	ENSP00000506676.1:p.Leu2091Ter
ENST00000294732.11:c.4066-6816_4066-6815del	ENSP00000294732.7:n.4066-6816_4066-6815del
ENST00000367408.5:c.1816-6816_1816-6815del	ENSP00000356378.1:n.1816-6816_1816-6815del
ENST00000367409.8:c.6271_6272del	ENSP00000356379.4:p.Leu2091Ter
ENST00000612785.1:c.562-333_562-332del	ENSP00000479244.1:n.562-333_562-332del
NM_001206846.1:c.4066-6816_4066-6815del	NP_001193775.1:n.4066-6816_4066-6815del
NM_018136.4:c.6271_6272del	NP_060606.3:p.Leu2091Ter
NM_018136.5:c.6271_6272del MANE Select	NP_060606.3:p.Leu2091Ter
NM_001206846.2:c.4066-6816_4066-6815del	NP_001193775.1:n.4066-6816_4066-6815del