Canonical Allele Identifier: CA2606710874

Gene: ASPM

Linked Data

• gnomAD v3: 1-197103697-TTA-T
• gnomAD v4: 1-197103697-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103700_197103701del , CM000663.2:g.197103700_197103701del	GRCh38
NC_000001.10:g.197072830_197072831del , CM000663.1:g.197072830_197072831del	GRCh37
NC_000001.9:g.195339453_195339454del	NCBI36
NG_015867.1:g.47996_47997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7535_2108-7534del
ENST00000367409.9:c.5552_5553del MANE Select	ENSP00000356379.4:p.Ile1851AsnfsTer15
ENST00000680265.1:c.5552_5553del	ENSP00000505384.1:p.Ile1851AsnfsTer15
ENST00000680710.1:c.5552_5553del	ENSP00000506676.1:p.Ile1851AsnfsTer15
ENST00000294732.11:c.4066-7535_4066-7534del	ENSP00000294732.7:n.4066-7535_4066-7534del
ENST00000367408.5:c.1816-7535_1816-7534del	ENSP00000356378.1:n.1816-7535_1816-7534del
ENST00000367409.8:c.5552_5553del	ENSP00000356379.4:p.Ile1851AsnfsTer15
ENST00000612785.1:c.562-1052_562-1051del	ENSP00000479244.1:n.562-1052_562-1051del
NM_001206846.1:c.4066-7535_4066-7534del	NP_001193775.1:n.4066-7535_4066-7534del
NM_018136.4:c.5552_5553del	NP_060606.3:p.Ile1851AsnfsTer15
NM_018136.5:c.5552_5553del MANE Select	NP_060606.3:p.Ile1851AsnfsTer15
NM_001206846.2:c.4066-7535_4066-7534del	NP_001193775.1:n.4066-7535_4066-7534del