Canonical Allele Identifier: CA2649664218

Gene: ASPM

Linked Data

• gnomAD v4: 1-197143182-ATTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143186_197143188del , CM000663.2:g.197143186_197143188del	GRCh38
NC_000001.10:g.197112316_197112318del , CM000663.1:g.197112316_197112318del	GRCh37
NC_000001.9:g.195378939_195378941del	NCBI36
NG_015867.1:g.8510_8512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1067_1069del MANE Select	ENSP00000356379.4:p.Thr356del
ENST00000679766.1:n.1284_1286del
ENST00000680265.1:c.1067_1069del	ENSP00000505384.1:p.Thr356del
ENST00000680710.1:c.1067_1069del	ENSP00000506676.1:p.Thr356del
ENST00000681879.1:c.1067_1069del	ENSP00000505363.1:p.Thr356del
ENST00000294732.11:c.1067_1069del	ENSP00000294732.7:p.Thr356del
ENST00000367409.8:c.1067_1069del	ENSP00000356379.4:p.Thr356del
ENST00000612785.1:c.561+506_561+508del	ENSP00000479244.1:n.561+506_561+508del
NM_001206846.1:c.1067_1069del	NP_001193775.1:p.Thr356del
NM_018136.4:c.1067_1069del	NP_060606.3:p.Thr356del
NM_018136.5:c.1067_1069del MANE Select	NP_060606.3:p.Thr356del
NM_001206846.2:c.1067_1069del	NP_001193775.1:p.Thr356del