Canonical Allele Identifier: CA2698077194

Gene: ASPM

Linked Data

• dbSNP Id: rs2125093762

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101178_197101180dup , CM000663.2:g.197101178_197101180dup	GRCh38
NC_000001.10:g.197070308_197070310dup , CM000663.1:g.197070308_197070310dup	GRCh37
NC_000001.9:g.195336931_195336933dup	NCBI36
NG_015867.1:g.50517_50519dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5014_2108-5012dup
ENST00000367409.9:c.8073_8075dup MANE Select	ENSP00000356379.4:p.Ala2692_Thr2693insAla
ENST00000680265.1:c.8073_8075dup	ENSP00000505384.1:p.Ala2692_Thr2693insAla
ENST00000680710.1:c.8073_8075dup	ENSP00000506676.1:p.Ala2692_Thr2693insAla
ENST00000294732.11:c.4066-5014_4066-5012dup	ENSP00000294732.7:n.4066-5014_4066-5012dup
ENST00000367408.5:c.1816-5014_1816-5012dup	ENSP00000356378.1:n.1816-5014_1816-5012dup
ENST00000367409.8:c.8073_8075dup	ENSP00000356379.4:p.Ala2692_Thr2693insAla
ENST00000612785.1:c.2031_2033dup	ENSP00000479244.1:p.Ala678_Thr679insAla
NM_001206846.1:c.4066-5014_4066-5012dup	NP_001193775.1:n.4066-5014_4066-5012dup
NM_018136.4:c.8073_8075dup	NP_060606.3:p.Ala2692_Thr2693insAla
NM_018136.5:c.8073_8075dup MANE Select	NP_060606.3:p.Ala2692_Thr2693insAla
NM_001206846.2:c.4066-5014_4066-5012dup	NP_001193775.1:n.4066-5014_4066-5012dup