Canonical Allele Identifier: CA2649662284

Gene: ASPM

Linked Data

• gnomAD v4: 1-197123973-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197123975_197123976del , CM000663.2:g.197123975_197123976del	GRCh38
NC_000001.10:g.197093105_197093106del , CM000663.1:g.197093105_197093106del	GRCh37
NC_000001.9:g.195359728_195359729del	NCBI36
NG_015867.1:g.27720_27721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1432+135_1432+136del
ENST00000367409.9:c.3390+135_3390+136del MANE Select	ENSP00000356379.4:n.3390+135_3390+136del
ENST00000680112.1:n.1446+135_1446+136del
ENST00000680265.1:c.3390+135_3390+136del	ENSP00000505384.1:n.3390+135_3390+136del
ENST00000680710.1:c.3390+135_3390+136del	ENSP00000506676.1:n.3390+135_3390+136del
ENST00000681879.1:c.3390+135_3390+136del	ENSP00000505363.1:n.3390+135_3390+136del
ENST00000294732.11:c.3390+135_3390+136del	ENSP00000294732.7:n.3390+135_3390+136del
ENST00000367408.5:c.1140+135_1140+136del	ENSP00000356378.1:n.1140+135_1140+136del
ENST00000367409.8:c.3390+135_3390+136del	ENSP00000356379.4:n.3390+135_3390+136del
ENST00000612785.1:c.561+19716_561+19717del	ENSP00000479244.1:n.561+19716_561+19717del
NM_001206846.1:c.3390+135_3390+136del	NP_001193775.1:n.3390+135_3390+136del
NM_018136.4:c.3390+135_3390+136del	NP_060606.3:n.3390+135_3390+136del
NM_018136.5:c.3390+135_3390+136del MANE Select	NP_060606.3:n.3390+135_3390+136del
NM_001206846.2:c.3390+135_3390+136del	NP_001193775.1:n.3390+135_3390+136del