Canonical Allele Identifier: CA2586967839

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2734066
• ClinVar RCV Id: RCV003562324
• gnomAD v4: 1-197102535-AGTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102539_197102542del , CM000663.2:g.197102539_197102542del	GRCh38
NC_000001.10:g.197071669_197071672del , CM000663.1:g.197071669_197071672del	GRCh37
NC_000001.9:g.195338292_195338295del	NCBI36
NG_015867.1:g.49156_49159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6375_2108-6372del
ENST00000367409.9:c.6712_6715del MANE Select	ENSP00000356379.4:p.Lys2238Ter
ENST00000680265.1:c.6712_6715del	ENSP00000505384.1:p.Lys2238Ter
ENST00000680710.1:c.6712_6715del	ENSP00000506676.1:p.Lys2238Ter
ENST00000294732.11:c.4066-6375_4066-6372del	ENSP00000294732.7:n.4066-6375_4066-6372del
ENST00000367408.5:c.1816-6375_1816-6372del	ENSP00000356378.1:n.1816-6375_1816-6372del
ENST00000367409.8:c.6712_6715del	ENSP00000356379.4:p.Lys2238Ter
ENST00000612785.1:c.670_673del	ENSP00000479244.1:p.Lys224Ter
NM_001206846.1:c.4066-6375_4066-6372del	NP_001193775.1:n.4066-6375_4066-6372del
NM_018136.4:c.6712_6715del	NP_060606.3:p.Lys2238Ter
NM_018136.5:c.6712_6715del MANE Select	NP_060606.3:p.Lys2238Ter
NM_001206846.2:c.4066-6375_4066-6372del	NP_001193775.1:n.4066-6375_4066-6372del