Canonical Allele Identifier: CA2573976834
Gene: ASPM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197139753del , CM000663.2:g.197139753del GRCh38
NC_000001.10:g.197108883del , CM000663.1:g.197108883del GRCh37
NC_000001.9:g.195375506del NCBI36
NG_015867.1:g.11942del

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.2026+14del MANE Select ENSP00000356379.4:n.2026+14del
ENST00000679766.1:n.2257del
ENST00000680112.1:n.82+14del
ENST00000680265.1:c.2026+14del ENSP00000505384.1:n.2026+14del
ENST00000680710.1:c.2026+14del ENSP00000506676.1:n.2026+14del
ENST00000681879.1:c.2026+14del ENSP00000505363.1:n.2026+14del
ENST00000294732.11:c.2026+14del ENSP00000294732.7:n.2026+14del
ENST00000367409.8:c.2026+14del ENSP00000356379.4:n.2026+14del
ENST00000612785.1:c.561+3938del ENSP00000479244.1:n.561+3938del
NM_001206846.1:c.2026+14del NP_001193775.1:n.2026+14del
NM_018136.4:c.2026+14del NP_060606.3:n.2026+14del
NM_018136.5:c.2026+14del MANE Select NP_060606.3:n.2026+14del
NM_001206846.2:c.2026+14del NP_001193775.1:n.2026+14del
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