Canonical Allele Identifier: CA16609502
Gene: ASPM HGNC NCBI

Linked Data

dbSNP Id: rs1060499757
MyVariant Identifiers: chr1:g.197070807_197070808del (hg19) chr1:g.197101677_197101678del (hg38)
PubMed: PMID:26539891
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197101680_197101681del , CM000663.2:g.197101680_197101681del GRCh38
NC_000001.10:g.197070810_197070811del , CM000663.1:g.197070810_197070811del GRCh37
NC_000001.9:g.195337433_195337434del NCBI36
NG_015867.1:g.50017_50018del

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2108-5514_2108-5513del
ENST00000367409.9:c.7573_7574del MANE Select ENSP00000356379.4:p.Glu2525LysfsTer17
ENST00000680265.1:c.7573_7574del ENSP00000505384.1:p.Glu2525LysfsTer17
ENST00000680710.1:c.7573_7574del ENSP00000506676.1:p.Glu2525LysfsTer17
ENST00000294732.11:c.4066-5514_4066-5513del ENSP00000294732.7:n.4066-5514_4066-5513de...
ENST00000367408.5:c.1816-5514_1816-5513del ENSP00000356378.1:n.1816-5514_1816-5513de...
ENST00000367409.8:c.7573_7574del ENSP00000356379.4:p.Glu2525LysfsTer17
ENST00000612785.1:c.1531_1532del ENSP00000479244.1:p.Glu511LysfsTer17
NM_001206846.1:c.4066-5514_4066-5513del NP_001193775.1:n.4066-5514_4066-5513del
NM_018136.4:c.7573_7574del NP_060606.3:p.Glu2525LysfsTer17
NM_018136.5:c.7573_7574del MANE Select NP_060606.3:p.Glu2525LysfsTer17
NM_001206846.2:c.4066-5514_4066-5513del NP_001193775.1:n.4066-5514_4066-5513del
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