Canonical Allele Identifier: CA2649661752

Gene: ASPM

Linked Data

• gnomAD v4: 1-197101587-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101591_197101592del , CM000663.2:g.197101591_197101592del	GRCh38
NC_000001.10:g.197070721_197070722del , CM000663.1:g.197070721_197070722del	GRCh37
NC_000001.9:g.195337344_195337345del	NCBI36
NG_015867.1:g.50106_50107del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-5425_2108-5424del
ENST00000367409.9:c.7662_7663del MANE Select	ENSP00000356379.4:p.His2554GlnfsTer14
ENST00000680265.1:c.7662_7663del	ENSP00000505384.1:p.His2554GlnfsTer14
ENST00000680710.1:c.7662_7663del	ENSP00000506676.1:p.His2554GlnfsTer14
ENST00000294732.11:c.4066-5425_4066-5424del	ENSP00000294732.7:n.4066-5425_4066-5424de...
ENST00000367408.5:c.1816-5425_1816-5424del	ENSP00000356378.1:n.1816-5425_1816-5424de...
ENST00000367409.8:c.7662_7663del	ENSP00000356379.4:p.His2554GlnfsTer14
ENST00000612785.1:c.1620_1621del	ENSP00000479244.1:p.His540GlnfsTer14
NM_001206846.1:c.4066-5425_4066-5424del	NP_001193775.1:n.4066-5425_4066-5424del
NM_018136.4:c.7662_7663del	NP_060606.3:p.His2554GlnfsTer14
NM_018136.5:c.7662_7663del MANE Select	NP_060606.3:p.His2554GlnfsTer14
NM_001206846.2:c.4066-5425_4066-5424del	NP_001193775.1:n.4066-5425_4066-5424del