Canonical Allele Identifier: CA2524357200

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124211del , CM000663.2:g.197124211del	GRCh38
NC_000001.10:g.197093341del , CM000663.1:g.197093341del	GRCh37
NC_000001.9:g.195359964del	NCBI36
NG_015867.1:g.27489del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1336del
ENST00000367409.9:c.3294del MANE Select	ENSP00000356379.4:p.Gly1099AlafsTer15
ENST00000680112.1:n.1350del
ENST00000680265.1:c.3294del	ENSP00000505384.1:p.Gly1099AlafsTer15
ENST00000680710.1:c.3294del	ENSP00000506676.1:p.Gly1099AlafsTer15
ENST00000681879.1:c.3294del	ENSP00000505363.1:p.Gly1099AlafsTer15
ENST00000294732.11:c.3294del	ENSP00000294732.7:p.Gly1099AlafsTer15
ENST00000367408.5:c.1044del	ENSP00000356378.1:p.Gly349AlafsTer15
ENST00000367409.8:c.3294del	ENSP00000356379.4:p.Gly1099AlafsTer15
ENST00000612785.1:c.561+19485del	ENSP00000479244.1:n.561+19485del
NM_001206846.1:c.3294del	NP_001193775.1:p.Gly1099AlafsTer15
NM_018136.4:c.3294del	NP_060606.3:p.Gly1099AlafsTer15
NM_018136.5:c.3294del MANE Select	NP_060606.3:p.Gly1099AlafsTer15
NM_001206846.2:c.3294del	NP_001193775.1:p.Gly1099AlafsTer15