Canonical Allele Identifier: CA2649661966

Gene: ASPM

Linked Data

• gnomAD v4: 1-197121808-TTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197121813_197121815del , CM000663.2:g.197121813_197121815del	GRCh38
NC_000001.10:g.197090943_197090945del , CM000663.1:g.197090943_197090945del	GRCh37
NC_000001.9:g.195357566_195357568del	NCBI36
NG_015867.1:g.29884_29886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1912+104_1912+106del
ENST00000367409.9:c.3870+104_3870+106del MANE Select	ENSP00000356379.4:n.3870+104_3870+106del
ENST00000680265.1:c.3870+104_3870+106del	ENSP00000505384.1:n.3870+104_3870+106del
ENST00000680710.1:c.3870+104_3870+106del	ENSP00000506676.1:n.3870+104_3870+106del
ENST00000681879.1:c.3918+56_3918+58del	ENSP00000505363.1:n.3918+56_3918+58del
ENST00000294732.11:c.3870+104_3870+106del	ENSP00000294732.7:n.3870+104_3870+106del
ENST00000367408.5:c.1620+104_1620+106del	ENSP00000356378.1:n.1620+104_1620+106del
ENST00000367409.8:c.3870+104_3870+106del	ENSP00000356379.4:n.3870+104_3870+106del
ENST00000612785.1:c.562-19164_562-19162del	ENSP00000479244.1:n.562-19164_562-19162del
NM_001206846.1:c.3870+104_3870+106del	NP_001193775.1:n.3870+104_3870+106del
NM_018136.4:c.3870+104_3870+106del	NP_060606.3:n.3870+104_3870+106del
NM_018136.5:c.3870+104_3870+106del MANE Select	NP_060606.3:n.3870+104_3870+106del
NM_001206846.2:c.3870+104_3870+106del	NP_001193775.1:n.3870+104_3870+106del