Canonical Allele Identifier: CA35870650

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1495347
• ClinVar RCV Id: RCV002028253
• dbSNP Id: rs386638268

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101685_197101686delinsCC , CM000663.2:g.197101685_197101686delinsCC	GRCh38
NC_000001.10:g.197070815_197070816delinsCC , CM000663.1:g.197070815_197070816delinsCC	GRCh37
NC_000001.9:g.195337438_195337439delinsCC	NCBI36
NG_015867.1:g.50009_50010delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5522_2108-5521delinsGG
ENST00000367409.9:c.7565_7566delinsGG MANE Select	ENSP00000356379.4:p.Leu2522Trp
ENST00000680265.1:c.7565_7566delinsGG	ENSP00000505384.1:p.Leu2522Trp
ENST00000680710.1:c.7565_7566delinsGG	ENSP00000506676.1:p.Leu2522Trp
ENST00000294732.11:c.4066-5522_4066-5521delinsGG	ENSP00000294732.7:n.4066-5522_4066-5521delinsGG
ENST00000367408.5:c.1816-5522_1816-5521delinsGG	ENSP00000356378.1:n.1816-5522_1816-5521delinsGG
ENST00000367409.8:c.7565_7566delinsGG	ENSP00000356379.4:p.Leu2522Trp
ENST00000612785.1:c.1523_1524delinsGG	ENSP00000479244.1:p.Leu508Trp
NM_001206846.1:c.4066-5522_4066-5521delinsGG	NP_001193775.1:n.4066-5522_4066-5521delinsGG
NM_018136.4:c.7565_7566delinsGG	NP_060606.3:p.Leu2522Trp
NM_018136.5:c.7565_7566delinsGG MANE Select	NP_060606.3:p.Leu2522Trp
NM_001206846.2:c.4066-5522_4066-5521delinsGG	NP_001193775.1:n.4066-5522_4066-5521delinsGG