Canonical Allele Identifier: CA2649661674

Gene: ASPM

Linked Data

• gnomAD v4: 1-197102596-CTGTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102601_197102606del , CM000663.2:g.197102601_197102606del	GRCh38
NC_000001.10:g.197071731_197071736del , CM000663.1:g.197071731_197071736del	GRCh37
NC_000001.9:g.195338354_195338359del	NCBI36
NG_015867.1:g.49093_49098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6438_2108-6433del
ENST00000367409.9:c.6649_6654del MANE Select	ENSP00000356379.4:p.Lys2217_Thr2218del
ENST00000680265.1:c.6649_6654del	ENSP00000505384.1:p.Lys2217_Thr2218del
ENST00000680710.1:c.6649_6654del	ENSP00000506676.1:p.Lys2217_Thr2218del
ENST00000294732.11:c.4066-6438_4066-6433del	ENSP00000294732.7:n.4066-6438_4066-6433del
ENST00000367408.5:c.1816-6438_1816-6433del	ENSP00000356378.1:n.1816-6438_1816-6433del
ENST00000367409.8:c.6649_6654del	ENSP00000356379.4:p.Lys2217_Thr2218del
ENST00000612785.1:c.607_612del	ENSP00000479244.1:p.Lys203_Thr204del
NM_001206846.1:c.4066-6438_4066-6433del	NP_001193775.1:n.4066-6438_4066-6433del
NM_018136.4:c.6649_6654del	NP_060606.3:p.Lys2217_Thr2218del
NM_018136.5:c.6649_6654del MANE Select	NP_060606.3:p.Lys2217_Thr2218del
NM_001206846.2:c.4066-6438_4066-6433del	NP_001193775.1:n.4066-6438_4066-6433del