Canonical Allele Identifier: CA2649660791

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090748-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090749_197090750del , CM000663.2:g.197090749_197090750del	GRCh38
NC_000001.10:g.197059879_197059880del , CM000663.1:g.197059879_197059880del	GRCh37
NC_000001.9:g.195326502_195326503del	NCBI36
NG_015867.1:g.60945_60946del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2923+100_2923+101del
ENST00000367409.9:c.9636+100_9636+101del MANE Select	ENSP00000356379.4:n.9636+100_9636+101del
ENST00000680265.1:c.9858+100_9858+101del	ENSP00000505384.1:n.9858+100_9858+101del
ENST00000680710.1:c.9612+100_9612+101del	ENSP00000506676.1:n.9612+100_9612+101del
ENST00000294732.11:c.4881+100_4881+101del	ENSP00000294732.7:n.4881+100_4881+101del
ENST00000367408.5:c.2631+100_2631+101del	ENSP00000356378.1:n.2631+100_2631+101del
ENST00000367409.8:c.9636+100_9636+101del	ENSP00000356379.4:n.9636+100_9636+101del
ENST00000612785.1:c.3594+100_3594+101del	ENSP00000479244.1:n.3594+100_3594+101del
NM_001206846.1:c.4881+100_4881+101del	NP_001193775.1:n.4881+100_4881+101del
NM_018136.4:c.9636+100_9636+101del	NP_060606.3:n.9636+100_9636+101del
NM_018136.5:c.9636+100_9636+101del MANE Select	NP_060606.3:n.9636+100_9636+101del
NM_001206846.2:c.4881+100_4881+101del	NP_001193775.1:n.4881+100_4881+101del