Canonical Allele Identifier: CA2649664201

Gene: ASPM

Linked Data

• gnomAD v4: 1-197142500-TGCATCTTCCATGCTTCCATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142503_197142522del , CM000663.2:g.197142503_197142522del	GRCh38
NC_000001.10:g.197111633_197111652del , CM000663.1:g.197111633_197111652del	GRCh37
NC_000001.9:g.195378256_195378275del	NCBI36
NG_015867.1:g.9175_9194del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1732_1751del MANE Select	ENSP00000356379.4:p.Asp578LysfsTer26
ENST00000679766.1:n.1949_1968del
ENST00000680265.1:c.1732_1751del	ENSP00000505384.1:p.Asp578LysfsTer26
ENST00000680710.1:c.1732_1751del	ENSP00000506676.1:p.Asp578LysfsTer26
ENST00000681879.1:c.1732_1751del	ENSP00000505363.1:p.Asp578LysfsTer26
ENST00000294732.11:c.1732_1751del	ENSP00000294732.7:p.Asp578LysfsTer26
ENST00000367409.8:c.1732_1751del	ENSP00000356379.4:p.Asp578LysfsTer26
ENST00000612785.1:c.561+1171_561+1190del	ENSP00000479244.1:n.561+1171_561+1190del
NM_001206846.1:c.1732_1751del	NP_001193775.1:p.Asp578LysfsTer26
NM_018136.4:c.1732_1751del	NP_060606.3:p.Asp578LysfsTer26
NM_018136.5:c.1732_1751del MANE Select	NP_060606.3:p.Asp578LysfsTer26
NM_001206846.2:c.1732_1751del	NP_001193775.1:p.Asp578LysfsTer26