Canonical Allele Identifier: CA2649660499

Gene: ASPM

Linked Data

• gnomAD v4: 1-197088537-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088542del , CM000663.2:g.197088542del	GRCh38
NC_000001.10:g.197057672del , CM000663.1:g.197057672del	GRCh37
NC_000001.9:g.195324295del	NCBI36
NG_015867.1:g.63157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3272-106del
ENST00000367409.9:c.9985-106del MANE Select	ENSP00000356379.4:n.9985-106del
ENST00000680265.1:c.10207-106del	ENSP00000505384.1:n.10207-106del
ENST00000680710.1:c.9961-106del	ENSP00000506676.1:n.9961-106del
ENST00000294732.11:c.5230-106del	ENSP00000294732.7:n.5230-106del
ENST00000367408.5:c.2980-106del	ENSP00000356378.1:n.2980-106del
ENST00000367409.8:c.9985-106del	ENSP00000356379.4:n.9985-106del
ENST00000612785.1:c.3943-106del	ENSP00000479244.1:n.3943-106del
NM_001206846.1:c.5230-106del	NP_001193775.1:n.5230-106del
NM_018136.4:c.9985-106del	NP_060606.3:n.9985-106del
NM_018136.5:c.9985-106del MANE Select	NP_060606.3:n.9985-106del
NM_001206846.2:c.5230-106del	NP_001193775.1:n.5230-106del