Canonical Allele Identifier: CA1010898033

Gene: ASPM

Linked Data

• dbSNP Id: rs1657910843
• gnomAD v3: 1-197121835-TAA-T
• gnomAD v4: 1-197121835-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197121838_197121839del , CM000663.2:g.197121838_197121839del	GRCh38
NC_000001.10:g.197090968_197090969del , CM000663.1:g.197090968_197090969del	GRCh37
NC_000001.9:g.195357591_195357592del	NCBI36
NG_015867.1:g.29858_29859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1912+78_1912+79del
ENST00000367409.9:c.3870+78_3870+79del MANE Select	ENSP00000356379.4:n.3870+78_3870+79del
ENST00000680265.1:c.3870+78_3870+79del	ENSP00000505384.1:n.3870+78_3870+79del
ENST00000680710.1:c.3870+78_3870+79del	ENSP00000506676.1:n.3870+78_3870+79del
ENST00000681879.1:c.3918+30_3918+31del	ENSP00000505363.1:n.3918+30_3918+31del
ENST00000294732.11:c.3870+78_3870+79del	ENSP00000294732.7:n.3870+78_3870+79del
ENST00000367408.5:c.1620+78_1620+79del	ENSP00000356378.1:n.1620+78_1620+79del
ENST00000367409.8:c.3870+78_3870+79del	ENSP00000356379.4:n.3870+78_3870+79del
ENST00000612785.1:c.562-19190_562-19189del	ENSP00000479244.1:n.562-19190_562-19189del
NM_001206846.1:c.3870+78_3870+79del	NP_001193775.1:n.3870+78_3870+79del
NM_018136.4:c.3870+78_3870+79del	NP_060606.3:n.3870+78_3870+79del
NM_018136.5:c.3870+78_3870+79del MANE Select	NP_060606.3:n.3870+78_3870+79del
NM_001206846.2:c.3870+78_3870+79del	NP_001193775.1:n.3870+78_3870+79del