Canonical Allele Identifier: CA2698075776

Gene: ASPM

Linked Data

• dbSNP Id: rs2125113871

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142658_197142660del , CM000663.2:g.197142658_197142660del	GRCh38
NC_000001.10:g.197111788_197111790del , CM000663.1:g.197111788_197111790del	GRCh37
NC_000001.9:g.195378411_195378413del	NCBI36
NG_015867.1:g.9038_9040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1595_1597del MANE Select	ENSP00000356379.4:p.Ile532del
ENST00000679766.1:n.1812_1814del
ENST00000680265.1:c.1595_1597del	ENSP00000505384.1:p.Ile532del
ENST00000680710.1:c.1595_1597del	ENSP00000506676.1:p.Ile532del
ENST00000681879.1:c.1595_1597del	ENSP00000505363.1:p.Ile532del
ENST00000294732.11:c.1595_1597del	ENSP00000294732.7:p.Ile532del
ENST00000367409.8:c.1595_1597del	ENSP00000356379.4:p.Ile532del
ENST00000612785.1:c.561+1034_561+1036del	ENSP00000479244.1:n.561+1034_561+1036del
NM_001206846.1:c.1595_1597del	NP_001193775.1:p.Ile532del
NM_018136.4:c.1595_1597del	NP_060606.3:p.Ile532del
NM_018136.5:c.1595_1597del MANE Select	NP_060606.3:p.Ile532del
NM_001206846.2:c.1595_1597del	NP_001193775.1:p.Ile532del