Canonical Allele Identifier: CA2573976054

Gene: ASPM

Linked Data

• gnomAD v4: 1-197124252-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124253_197124254del , CM000663.2:g.197124253_197124254del	GRCh38
NC_000001.10:g.197093383_197093384del , CM000663.1:g.197093383_197093384del	GRCh37
NC_000001.9:g.195360006_195360007del	NCBI36
NG_015867.1:g.27441_27442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1288_1289del
ENST00000367409.9:c.3246_3247del MANE Select	ENSP00000356379.4:p.Leu1085ThrfsTer6
ENST00000680112.1:n.1302_1303del
ENST00000680265.1:c.3246_3247del	ENSP00000505384.1:p.Leu1085ThrfsTer6
ENST00000680710.1:c.3246_3247del	ENSP00000506676.1:p.Leu1085ThrfsTer6
ENST00000681879.1:c.3246_3247del	ENSP00000505363.1:p.Leu1085ThrfsTer6
ENST00000294732.11:c.3246_3247del	ENSP00000294732.7:p.Leu1085ThrfsTer6
ENST00000367408.5:c.996_997del	ENSP00000356378.1:p.Leu335ThrfsTer6
ENST00000367409.8:c.3246_3247del	ENSP00000356379.4:p.Leu1085ThrfsTer6
ENST00000612785.1:c.561+19437_561+19438del	ENSP00000479244.1:n.561+19437_561+19438del
NM_001206846.1:c.3246_3247del	NP_001193775.1:p.Leu1085ThrfsTer6
NM_018136.4:c.3246_3247del	NP_060606.3:p.Leu1085ThrfsTer6
NM_018136.5:c.3246_3247del MANE Select	NP_060606.3:p.Leu1085ThrfsTer6
NM_001206846.2:c.3246_3247del	NP_001193775.1:p.Leu1085ThrfsTer6