Canonical Allele Identifier: CA2649662054

Gene: ASPM

Linked Data

• gnomAD v4: 1-197122157-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122159del , CM000663.2:g.197122159del	GRCh38
NC_000001.10:g.197091289del , CM000663.1:g.197091289del	GRCh37
NC_000001.9:g.195357912del	NCBI36
NG_015867.1:g.29537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1783+1del
ENST00000367409.9:c.3741+1del
ENST00000680112.1:n.1797+1del
ENST00000680265.1:c.3741+1del
ENST00000680710.1:c.3741+1del
ENST00000681879.1:c.3741+1del
ENST00000294732.11:c.3741+1del
ENST00000367408.5:c.1491+1del
ENST00000367409.8:c.3741+1del
ENST00000612785.1:c.562-19511del	ENSP00000479244.1:n.562-19511del
NM_001206846.1:c.3741+1del
NM_018136.4:c.3741+1del
NM_018136.5:c.3741+1del
NM_001206846.2:c.3741+1del