Canonical Allele Identifier: CA2649664212

Gene: ASPM

Linked Data

• gnomAD v4: 1-197142860-AAAACTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142862_197142868del , CM000663.2:g.197142862_197142868del	GRCh38
NC_000001.10:g.197111992_197111998del , CM000663.1:g.197111992_197111998del	GRCh37
NC_000001.9:g.195378615_195378621del	NCBI36
NG_015867.1:g.8828_8834del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1385_1391del MANE Select	ENSP00000356379.4:p.Tyr462LeufsTer2
ENST00000679766.1:n.1602_1608del
ENST00000680265.1:c.1385_1391del	ENSP00000505384.1:p.Tyr462LeufsTer2
ENST00000680710.1:c.1385_1391del	ENSP00000506676.1:p.Tyr462LeufsTer2
ENST00000681879.1:c.1385_1391del	ENSP00000505363.1:p.Tyr462LeufsTer2
ENST00000294732.11:c.1385_1391del	ENSP00000294732.7:p.Tyr462LeufsTer2
ENST00000367409.8:c.1385_1391del	ENSP00000356379.4:p.Tyr462LeufsTer2
ENST00000612785.1:c.561+824_561+830del	ENSP00000479244.1:n.561+824_561+830del
NM_001206846.1:c.1385_1391del	NP_001193775.1:p.Tyr462LeufsTer2
NM_018136.4:c.1385_1391del	NP_060606.3:p.Tyr462LeufsTer2
NM_018136.5:c.1385_1391del MANE Select	NP_060606.3:p.Tyr462LeufsTer2
NM_001206846.2:c.1385_1391del	NP_001193775.1:p.Tyr462LeufsTer2