Canonical Allele Identifier: CA2649661714

Gene: ASPM

Linked Data

• gnomAD v4: 1-197101100-AACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101103_197101105del , CM000663.2:g.197101103_197101105del	GRCh38
NC_000001.10:g.197070233_197070235del , CM000663.1:g.197070233_197070235del	GRCh37
NC_000001.9:g.195336856_195336858del	NCBI36
NG_015867.1:g.50592_50594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4939_2108-4937del
ENST00000367409.9:c.8148_8150del MANE Select	ENSP00000356379.4:p.Val2717del
ENST00000680265.1:c.8148_8150del	ENSP00000505384.1:p.Val2717del
ENST00000680710.1:c.8148_8150del	ENSP00000506676.1:p.Val2717del
ENST00000294732.11:c.4066-4939_4066-4937del	ENSP00000294732.7:n.4066-4939_4066-4937del
ENST00000367408.5:c.1816-4939_1816-4937del	ENSP00000356378.1:n.1816-4939_1816-4937del
ENST00000367409.8:c.8148_8150del	ENSP00000356379.4:p.Val2717del
ENST00000612785.1:c.2106_2108del	ENSP00000479244.1:p.Val703del
NM_001206846.1:c.4066-4939_4066-4937del	NP_001193775.1:n.4066-4939_4066-4937del
NM_018136.4:c.8148_8150del	NP_060606.3:p.Val2717del
NM_018136.5:c.8148_8150del MANE Select	NP_060606.3:p.Val2717del
NM_001206846.2:c.4066-4939_4066-4937del	NP_001193775.1:n.4066-4939_4066-4937del