Canonical Allele Identifier: CA528535083

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1029518
• ClinVar RCV Id: RCV001330824
• dbSNP Id: rs1240081512
• gnomAD v2: 1-197093344-TATTA-T
• gnomAD v4: 1-197124214-TATTA-T
• MyVariant Identifiers: chr1:g.197093345_197093348del (hg19) ; chr1:g.197124215_197124218del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124217_197124220del , CM000663.2:g.197124217_197124220del	GRCh38
NC_000001.10:g.197093347_197093350del , CM000663.1:g.197093347_197093350del	GRCh37
NC_000001.9:g.195359970_195359973del	NCBI36
NG_015867.1:g.27477_27480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1324_1327del
ENST00000367409.9:c.3282_3285del MANE Select	ENSP00000356379.4:p.Asn1095ArgfsTer18
ENST00000680112.1:n.1338_1341del
ENST00000680265.1:c.3282_3285del	ENSP00000505384.1:p.Asn1095ArgfsTer18
ENST00000680710.1:c.3282_3285del	ENSP00000506676.1:p.Asn1095ArgfsTer18
ENST00000681879.1:c.3282_3285del	ENSP00000505363.1:p.Asn1095ArgfsTer18
ENST00000294732.11:c.3282_3285del	ENSP00000294732.7:p.Asn1095ArgfsTer18
ENST00000367408.5:c.1032_1035del	ENSP00000356378.1:p.Asn345ArgfsTer18
ENST00000367409.8:c.3282_3285del	ENSP00000356379.4:p.Asn1095ArgfsTer18
ENST00000612785.1:c.561+19473_561+19476del	ENSP00000479244.1:n.561+19473_561+19476del
NM_001206846.1:c.3282_3285del	NP_001193775.1:p.Asn1095ArgfsTer18
NM_018136.4:c.3282_3285del	NP_060606.3:p.Asn1095ArgfsTer18
NM_018136.5:c.3282_3285del MANE Select	NP_060606.3:p.Asn1095ArgfsTer18
NM_001206846.2:c.3282_3285del	NP_001193775.1:p.Asn1095ArgfsTer18