Canonical Allele Identifier: CA528535063

Gene: ASPM

Linked Data

• dbSNP Id: rs1245417526
• gnomAD v2: 1-197057568-A-AGAAACTACTTCATACT
• gnomAD v3: 1-197088438-A-AGAAACTACTTCATACT
• gnomAD v4: 1-197088438-A-AGAAACTACTTCATACT
• MyVariant Identifiers: chr1:g.197057568_197057569insGAAACTACTTCATACT (hg19) ; chr1:g.197088438_197088439insGAAACTACTTCATACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088440_197088441insAACTACTTCATACTGA , CM000663.2:g.197088440_197088441insAACTACTTCATACTGA	GRCh38
NC_000001.10:g.197057570_197057571insAACTACTTCATACTGA , CM000663.1:g.197057570_197057571insAACTACTTCATACTGA	GRCh37
NC_000001.9:g.195324193_195324194insAACTACTTCATACTGA	NCBI36
NG_015867.1:g.63256_63257insAGTATGAAGTAGTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3272-7_3272-6insAGTATGAAGTAGTTTC
ENST00000367409.9:c.9985-7_9985-6insAGTATGAAGTAGTTTC MANE Select	ENSP00000356379.4:n.9985-7_9985-6insAGTATGAAGTAGTTTC
ENST00000680265.1:c.10207-7_10207-6insAGTATGAAGTAGTTTC	ENSP00000505384.1:n.10207-7_10207-6insAGTATGAAGTAGTTTC
ENST00000680710.1:c.9961-7_9961-6insAGTATGAAGTAGTTTC	ENSP00000506676.1:n.9961-7_9961-6insAGTATGAAGTAGTTTC
ENST00000294732.11:c.5230-7_5230-6insAGTATGAAGTAGTTTC	ENSP00000294732.7:n.5230-7_5230-6insAGTATGAAGTAGTTTC
ENST00000367408.5:c.2980-7_2980-6insAGTATGAAGTAGTTTC	ENSP00000356378.1:n.2980-7_2980-6insAGTATGAAGTAGTTTC
ENST00000367409.8:c.9985-7_9985-6insAGTATGAAGTAGTTTC	ENSP00000356379.4:n.9985-7_9985-6insAGTATGAAGTAGTTTC
ENST00000612785.1:c.3943-7_3943-6insAGTATGAAGTAGTTTC	ENSP00000479244.1:n.3943-7_3943-6insAGTATGAAGTAGTTTC
NM_001206846.1:c.5230-7_5230-6insAGTATGAAGTAGTTTC	NP_001193775.1:n.5230-7_5230-6insAGTATGAAGTAGTTTC
NM_018136.4:c.9985-7_9985-6insAGTATGAAGTAGTTTC	NP_060606.3:n.9985-7_9985-6insAGTATGAAGTAGTTTC
NM_018136.5:c.9985-7_9985-6insAGTATGAAGTAGTTTC MANE Select	NP_060606.3:n.9985-7_9985-6insAGTATGAAGTAGTTTC
NM_001206846.2:c.5230-7_5230-6insAGTATGAAGTAGTTTC	NP_001193775.1:n.5230-7_5230-6insAGTATGAAGTAGTTTC