Canonical Allele Identifier: CA2649661690

Gene: ASPM

Linked Data

• gnomAD v4: 1-197102927-T-TCTAATA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102929_197102934dup , CM000663.2:g.197102929_197102934dup	GRCh38
NC_000001.10:g.197072059_197072064dup , CM000663.1:g.197072059_197072064dup	GRCh37
NC_000001.9:g.195338682_195338687dup	NCBI36
NG_015867.1:g.48762_48767dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6769_2108-6764dup
ENST00000367409.9:c.6318_6323dup MANE Select	ENSP00000356379.4:p.Ile2107_Arg2108insSerIle
ENST00000680265.1:c.6318_6323dup	ENSP00000505384.1:p.Ile2107_Arg2108insSerIle
ENST00000680710.1:c.6318_6323dup	ENSP00000506676.1:p.Ile2107_Arg2108insSerIle
ENST00000294732.11:c.4066-6769_4066-6764dup	ENSP00000294732.7:n.4066-6769_4066-6764dup
ENST00000367408.5:c.1816-6769_1816-6764dup	ENSP00000356378.1:n.1816-6769_1816-6764dup
ENST00000367409.8:c.6318_6323dup	ENSP00000356379.4:p.Ile2107_Arg2108insSerIle
ENST00000612785.1:c.562-286_562-281dup	ENSP00000479244.1:n.562-286_562-281dup
NM_001206846.1:c.4066-6769_4066-6764dup	NP_001193775.1:n.4066-6769_4066-6764dup
NM_018136.4:c.6318_6323dup	NP_060606.3:p.Ile2107_Arg2108insSerIle
NM_018136.5:c.6318_6323dup MANE Select	NP_060606.3:p.Ile2107_Arg2108insSerIle
NM_001206846.2:c.4066-6769_4066-6764dup	NP_001193775.1:n.4066-6769_4066-6764dup