Canonical Allele Identifier: CA2649660429

Gene: ASPM

Linked Data

• gnomAD v4: 1-197088256-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088257del , CM000663.2:g.197088257del	GRCh38
NC_000001.10:g.197057387del , CM000663.1:g.197057387del	GRCh37
NC_000001.9:g.195324010del	NCBI36
NG_015867.1:g.63438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3447del
ENST00000367409.9:c.10160del MANE Select	ENSP00000356379.4:p.Ser3387LeufsTer26
ENST00000680265.1:c.10382del	ENSP00000505384.1:p.Ser3461LeufsTer26
ENST00000680710.1:c.10136del	ENSP00000506676.1:p.Ser3379LeufsTer26
ENST00000294732.11:c.5405del	ENSP00000294732.7:p.Ser1802LeufsTer26
ENST00000367408.5:c.3155del	ENSP00000356378.1:p.Ser1052LeufsTer26
ENST00000367409.8:c.10160del	ENSP00000356379.4:p.Ser3387LeufsTer26
ENST00000612785.1:c.4118del	ENSP00000479244.1:p.Ser1373LeufsTer2
NM_001206846.1:c.5405del	NP_001193775.1:p.Ser1802LeufsTer26
NM_018136.4:c.10160del	NP_060606.3:p.Ser3387LeufsTer26
NM_018136.5:c.10160del MANE Select	NP_060606.3:p.Ser3387LeufsTer26
NM_001206846.2:c.5405del	NP_001193775.1:p.Ser1802LeufsTer26