Canonical Allele Identifier: CA2549186746
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197093028_197093030del , CM000663.2:g.197093028_197093030del GRCh38
NC_000001.10:g.197062158_197062160del , CM000663.1:g.197062158_197062160del GRCh37
NC_000001.9:g.195328781_195328783del NCBI36
NG_015867.1:g.58665_58667del

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2581+22_2581+24del
ENST00000367409.9:c.9294+22_9294+24del MANE Select ENSP00000356379.4:n.9294+22_9294+24del
ENST00000680265.1:c.9516+22_9516+24del ENSP00000505384.1:n.9516+22_9516+24del
ENST00000680710.1:c.9294+22_9294+24del ENSP00000506676.1:n.9294+22_9294+24del
ENST00000294732.11:c.4539+22_4539+24del ENSP00000294732.7:n.4539+22_4539+24del
ENST00000367408.5:c.2289+22_2289+24del ENSP00000356378.1:n.2289+22_2289+24del
ENST00000367409.8:c.9294+22_9294+24del ENSP00000356379.4:n.9294+22_9294+24del
ENST00000612785.1:c.3252+22_3252+24del ENSP00000479244.1:n.3252+22_3252+24del
NM_001206846.1:c.4539+22_4539+24del NP_001193775.1:n.4539+22_4539+24del
NM_018136.4:c.9294+22_9294+24del NP_060606.3:n.9294+22_9294+24del
NM_018136.5:c.9294+22_9294+24del MANE Select NP_060606.3:n.9294+22_9294+24del
NM_001206846.2:c.4539+22_4539+24del NP_001193775.1:n.4539+22_4539+24del