Canonical Allele Identifier: CA2573051454

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1180742
• ClinVar RCV Id: RCV001814471
• dbSNP Id: rs2125113873
• gnomAD v4: 1-197142656-TATTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142657_197142660del , CM000663.2:g.197142657_197142660del	GRCh38
NC_000001.10:g.197111787_197111790del , CM000663.1:g.197111787_197111790del	GRCh37
NC_000001.9:g.195378410_195378413del	NCBI36
NG_015867.1:g.9035_9038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1592_1595del MANE Select	ENSP00000356379.4:p.Val531GlufsTer17
ENST00000679766.1:n.1809_1812del
ENST00000680265.1:c.1592_1595del	ENSP00000505384.1:p.Val531GlufsTer17
ENST00000680710.1:c.1592_1595del	ENSP00000506676.1:p.Val531GlufsTer17
ENST00000681879.1:c.1592_1595del	ENSP00000505363.1:p.Val531GlufsTer17
ENST00000294732.11:c.1592_1595del	ENSP00000294732.7:p.Val531GlufsTer17
ENST00000367409.8:c.1592_1595del	ENSP00000356379.4:p.Val531GlufsTer17
ENST00000612785.1:c.561+1031_561+1034del	ENSP00000479244.1:n.561+1031_561+1034del
NM_001206846.1:c.1592_1595del	NP_001193775.1:p.Val531GlufsTer17
NM_018136.4:c.1592_1595del	NP_060606.3:p.Val531GlufsTer17
NM_018136.5:c.1592_1595del MANE Select	NP_060606.3:p.Val531GlufsTer17
NM_001206846.2:c.1592_1595del	NP_001193775.1:p.Val531GlufsTer17