Canonical Allele Identifier: CA2740090428

Gene: ASPM

Linked Data

• ClinVar Variation Id: 3014942
• ClinVar RCV Id: RCV003878565

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197125175_197125176del , CM000663.2:g.197125175_197125176del	GRCh38
NC_000001.10:g.197094305_197094306del , CM000663.1:g.197094305_197094306del	GRCh37
NC_000001.9:g.195360928_195360929del	NCBI36
NG_015867.1:g.26521_26522del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.906_907del
ENST00000367409.9:c.2954_2955del MANE Select	ENSP00000356379.4:p.Leu985HisfsTer25
ENST00000680112.1:n.1010_1011del
ENST00000680265.1:c.2954_2955del	ENSP00000505384.1:p.Leu985HisfsTer25
ENST00000680710.1:c.2954_2955del	ENSP00000506676.1:p.Leu985HisfsTer25
ENST00000681879.1:c.2954_2955del	ENSP00000505363.1:p.Leu985HisfsTer25
ENST00000294732.11:c.2954_2955del	ENSP00000294732.7:p.Leu985HisfsTer25
ENST00000367408.5:c.704_705del	ENSP00000356378.1:p.Leu235HisfsTer25
ENST00000367409.8:c.2954_2955del	ENSP00000356379.4:p.Leu985HisfsTer25
ENST00000612785.1:c.561+18517_561+18518del	ENSP00000479244.1:n.561+18517_561+18518de...
NM_001206846.1:c.2954_2955del	NP_001193775.1:p.Leu985HisfsTer25
NM_018136.4:c.2954_2955del	NP_060606.3:p.Leu985HisfsTer25
NM_018136.5:c.2954_2955del MANE Select	NP_060606.3:p.Leu985HisfsTer25
NM_001206846.2:c.2954_2955del	NP_001193775.1:p.Leu985HisfsTer25