Canonical Allele Identifier: CA528534960

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1417954
• ClinVar RCV Id: RCV001930778
• dbSNP Id: rs1223631450
• gnomAD v2: 1-197070214-TATA-T
• gnomAD v3: 1-197101084-TATA-T
• gnomAD v4: 1-197101084-TATA-T
• MyVariant Identifiers: chr1:g.197070215_197070217del (hg19) ; chr1:g.197101085_197101087del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101090_197101092del , CM000663.2:g.197101090_197101092del	GRCh38
NC_000001.10:g.197070220_197070222del , CM000663.1:g.197070220_197070222del	GRCh37
NC_000001.9:g.195336843_195336845del	NCBI36
NG_015867.1:g.50608_50610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4923_2108-4921del
ENST00000367409.9:c.8164_8166del MANE Select	ENSP00000356379.4:p.Tyr2722del
ENST00000680265.1:c.8164_8166del	ENSP00000505384.1:p.Tyr2722del
ENST00000680710.1:c.8164_8166del	ENSP00000506676.1:p.Tyr2722del
ENST00000294732.11:c.4066-4923_4066-4921del	ENSP00000294732.7:n.4066-4923_4066-4921del
ENST00000367408.5:c.1816-4923_1816-4921del	ENSP00000356378.1:n.1816-4923_1816-4921del
ENST00000367409.8:c.8164_8166del	ENSP00000356379.4:p.Tyr2722del
ENST00000612785.1:c.2122_2124del	ENSP00000479244.1:p.Tyr708del
NM_001206846.1:c.4066-4923_4066-4921del	NP_001193775.1:n.4066-4923_4066-4921del
NM_018136.4:c.8164_8166del	NP_060606.3:p.Tyr2722del
NM_018136.5:c.8164_8166del MANE Select	NP_060606.3:p.Tyr2722del
NM_001206846.2:c.4066-4923_4066-4921del	NP_001193775.1:n.4066-4923_4066-4921del