Canonical Allele Identifier: CA2649662160

Gene: ASPM

Linked Data

• gnomAD v4: 1-197122494-ACGCTGACATATAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122497_197122509del , CM000663.2:g.197122497_197122509del	GRCh38
NC_000001.10:g.197091627_197091639del , CM000663.1:g.197091627_197091639del	GRCh37
NC_000001.9:g.195358250_195358262del	NCBI36
NG_015867.1:g.29188_29200del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.1521_1533del
ENST00000367409.9:c.3479_3491del MANE Select	ENSP00000356379.4:p.Ala1160ValfsTer16
ENST00000680112.1:n.1535_1547del
ENST00000680265.1:c.3479_3491del	ENSP00000505384.1:p.Ala1160ValfsTer16
ENST00000680710.1:c.3479_3491del	ENSP00000506676.1:p.Ala1160ValfsTer16
ENST00000681879.1:c.3479_3491del	ENSP00000505363.1:p.Ala1160ValfsTer16
ENST00000294732.11:c.3479_3491del	ENSP00000294732.7:p.Ala1160ValfsTer16
ENST00000367408.5:c.1229_1241del	ENSP00000356378.1:p.Ala410ValfsTer16
ENST00000367409.8:c.3479_3491del	ENSP00000356379.4:p.Ala1160ValfsTer16
ENST00000612785.1:c.562-19860_562-19848del	ENSP00000479244.1:n.562-19860_562-19848de...
NM_001206846.1:c.3479_3491del	NP_001193775.1:p.Ala1160ValfsTer16
NM_018136.4:c.3479_3491del	NP_060606.3:p.Ala1160ValfsTer16
NM_018136.5:c.3479_3491del MANE Select	NP_060606.3:p.Ala1160ValfsTer16
NM_001206846.2:c.3479_3491del	NP_001193775.1:p.Ala1160ValfsTer16