Canonical Allele Identifier: CA2573975108
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197093021del , CM000663.2:g.197093021del GRCh38
NC_000001.10:g.197062151del , CM000663.1:g.197062151del GRCh37
NC_000001.9:g.195328774del NCBI36
NG_015867.1:g.58675del

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2581+32del
ENST00000367409.9:c.9294+32del MANE Select ENSP00000356379.4:n.9294+32del
ENST00000680265.1:c.9516+32del ENSP00000505384.1:n.9516+32del
ENST00000680710.1:c.9294+32del ENSP00000506676.1:n.9294+32del
ENST00000294732.11:c.4539+32del ENSP00000294732.7:n.4539+32del
ENST00000367408.5:c.2289+32del ENSP00000356378.1:n.2289+32del
ENST00000367409.8:c.9294+32del ENSP00000356379.4:n.9294+32del
ENST00000612785.1:c.3252+32del ENSP00000479244.1:n.3252+32del
NM_001206846.1:c.4539+32del NP_001193775.1:n.4539+32del
NM_018136.4:c.9294+32del NP_060606.3:n.9294+32del
NM_018136.5:c.9294+32del MANE Select NP_060606.3:n.9294+32del
NM_001206846.2:c.4539+32del NP_001193775.1:n.4539+32del