Canonical Allele Identifier: CA2649660667

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090436-CTATTTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090440_197090445del , CM000663.2:g.197090440_197090445del	GRCh38
NC_000001.10:g.197059570_197059575del , CM000663.1:g.197059570_197059575del	GRCh37
NC_000001.9:g.195326193_195326198del	NCBI36
NG_015867.1:g.61253_61258del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2924-54_2924-49del
ENST00000367409.9:c.9637-54_9637-49del MANE Select	ENSP00000356379.4:n.9637-54_9637-49del
ENST00000680265.1:c.9859-54_9859-49del	ENSP00000505384.1:n.9859-54_9859-49del
ENST00000680710.1:c.9613-54_9613-49del	ENSP00000506676.1:n.9613-54_9613-49del
ENST00000294732.11:c.4882-54_4882-49del	ENSP00000294732.7:n.4882-54_4882-49del
ENST00000367408.5:c.2632-54_2632-49del	ENSP00000356378.1:n.2632-54_2632-49del
ENST00000367409.8:c.9637-54_9637-49del	ENSP00000356379.4:n.9637-54_9637-49del
ENST00000612785.1:c.3595-54_3595-49del	ENSP00000479244.1:n.3595-54_3595-49del
NM_001206846.1:c.4882-54_4882-49del	NP_001193775.1:n.4882-54_4882-49del
NM_018136.4:c.9637-54_9637-49del	NP_060606.3:n.9637-54_9637-49del
NM_018136.5:c.9637-54_9637-49del MANE Select	NP_060606.3:n.9637-54_9637-49del
NM_001206846.2:c.4882-54_4882-49del	NP_001193775.1:n.4882-54_4882-49del