Canonical Allele Identifier: CA1217930432

Gene: ASPM

Linked Data

• dbSNP Id: rs1657242528

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102818_197102820del , CM000663.2:g.197102818_197102820del	GRCh38
NC_000001.10:g.197071948_197071950del , CM000663.1:g.197071948_197071950del	GRCh37
NC_000001.9:g.195338571_195338573del	NCBI36
NG_015867.1:g.48877_48879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6654_2108-6652del
ENST00000367409.9:c.6433_6435del MANE Select	ENSP00000356379.4:p.Val2145del
ENST00000680265.1:c.6433_6435del	ENSP00000505384.1:p.Val2145del
ENST00000680710.1:c.6433_6435del	ENSP00000506676.1:p.Val2145del
ENST00000294732.11:c.4066-6654_4066-6652del	ENSP00000294732.7:n.4066-6654_4066-6652del
ENST00000367408.5:c.1816-6654_1816-6652del	ENSP00000356378.1:n.1816-6654_1816-6652del
ENST00000367409.8:c.6433_6435del	ENSP00000356379.4:p.Val2145del
ENST00000612785.1:c.562-171_562-169del	ENSP00000479244.1:n.562-171_562-169del
NM_001206846.1:c.4066-6654_4066-6652del	NP_001193775.1:n.4066-6654_4066-6652del
NM_018136.4:c.6433_6435del	NP_060606.3:p.Val2145del
NM_018136.5:c.6433_6435del MANE Select	NP_060606.3:p.Val2145del
NM_001206846.2:c.4066-6654_4066-6652del	NP_001193775.1:n.4066-6654_4066-6652del