Canonical Allele Identifier: CA2573051450

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1323946
• ClinVar RCV Id: RCV001780651
• dbSNP Id: rs2125089566

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093238del , CM000663.2:g.197093238del	GRCh38
NC_000001.10:g.197062368del , CM000663.1:g.197062368del	GRCh37
NC_000001.9:g.195328991del	NCBI36
NG_015867.1:g.58458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2396del
ENST00000367409.9:c.9109del MANE Select	ENSP00000356379.4:p.Gln3037LysfsTer21
ENST00000680265.1:c.9331del	ENSP00000505384.1:p.Gln3111LysfsTer21
ENST00000680710.1:c.9109del	ENSP00000506676.1:p.Gln3037LysfsTer21
ENST00000294732.11:c.4354del	ENSP00000294732.7:p.Gln1452LysfsTer21
ENST00000367408.5:c.2104del	ENSP00000356378.1:p.Gln702LysfsTer21
ENST00000367409.8:c.9109del	ENSP00000356379.4:p.Gln3037LysfsTer21
ENST00000612785.1:c.3067del	ENSP00000479244.1:p.Gln1023LysfsTer21
NM_001206846.1:c.4354del	NP_001193775.1:p.Gln1452LysfsTer21
NM_018136.4:c.9109del	NP_060606.3:p.Gln3037LysfsTer21
NM_018136.5:c.9109del MANE Select	NP_060606.3:p.Gln3037LysfsTer21
NM_001206846.2:c.4354del	NP_001193775.1:p.Gln1452LysfsTer21