Canonical Allele Identifier: CA2649660775

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090740-GCTAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090741_197090745del , CM000663.2:g.197090741_197090745del	GRCh38
NC_000001.10:g.197059871_197059875del , CM000663.1:g.197059871_197059875del	GRCh37
NC_000001.9:g.195326494_195326498del	NCBI36
NG_015867.1:g.60950_60954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2923+105_2923+109del
ENST00000367409.9:c.9636+105_9636+109del MANE Select	ENSP00000356379.4:n.9636+105_9636+109del
ENST00000680265.1:c.9858+105_9858+109del	ENSP00000505384.1:n.9858+105_9858+109del
ENST00000680710.1:c.9612+105_9612+109del	ENSP00000506676.1:n.9612+105_9612+109del
ENST00000294732.11:c.4881+105_4881+109del	ENSP00000294732.7:n.4881+105_4881+109del
ENST00000367408.5:c.2631+105_2631+109del	ENSP00000356378.1:n.2631+105_2631+109del
ENST00000367409.8:c.9636+105_9636+109del	ENSP00000356379.4:n.9636+105_9636+109del
ENST00000612785.1:c.3594+105_3594+109del	ENSP00000479244.1:n.3594+105_3594+109del
NM_001206846.1:c.4881+105_4881+109del	NP_001193775.1:n.4881+105_4881+109del
NM_018136.4:c.9636+105_9636+109del	NP_060606.3:n.9636+105_9636+109del
NM_018136.5:c.9636+105_9636+109del MANE Select	NP_060606.3:n.9636+105_9636+109del
NM_001206846.2:c.4881+105_4881+109del	NP_001193775.1:n.4881+105_4881+109del