Canonical Allele Identifier: CA1217946578

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1972614
• ClinVar RCV Id: RCV002750351
• dbSNP Id: rs1658664444

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143402_197143403insAGAATTAAATGTTAC , CM000663.2:g.197143402_197143403insAGAATTAAATGTTAC	GRCh38
NC_000001.10:g.197112532_197112533insAGAATTAAATGTTAC , CM000663.1:g.197112532_197112533insAGAATTAAATGTTAC	GRCh37
NC_000001.9:g.195379155_195379156insAGAATTAAATGTTAC	NCBI36
NG_015867.1:g.8296_8297insCATTTAATTCTGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.853_854insCATTTAATTCTGTAA MANE Select	ENSP00000356379.4:p.Val284_Asn285insThrPheAsnSerVal
ENST00000679766.1:n.1070_1071insCATTTAATTCTGTAA
ENST00000680265.1:c.853_854insCATTTAATTCTGTAA	ENSP00000505384.1:p.Val284_Asn285insThrPheAsnSerVal
ENST00000680710.1:c.853_854insCATTTAATTCTGTAA	ENSP00000506676.1:p.Val284_Asn285insThrPheAsnSerVal
ENST00000681879.1:c.853_854insCATTTAATTCTGTAA	ENSP00000505363.1:p.Val284_Asn285insThrPheAsnSerVal
ENST00000294732.11:c.853_854insCATTTAATTCTGTAA	ENSP00000294732.7:p.Val284_Asn285insThrPheAsnSerVal
ENST00000367409.8:c.853_854insCATTTAATTCTGTAA	ENSP00000356379.4:p.Val284_Asn285insThrPheAsnSerVal
ENST00000612785.1:c.561+292_561+293insCATTTAATTCTGTAA	ENSP00000479244.1:n.561+292_561+293insCATTTAATTCTGTAA
NM_001206846.1:c.853_854insCATTTAATTCTGTAA	NP_001193775.1:p.Val284_Asn285insThrPheAsnSerVal
NM_018136.4:c.853_854insCATTTAATTCTGTAA	NP_060606.3:p.Val284_Asn285insThrPheAsnSerVal
NM_018136.5:c.853_854insCATTTAATTCTGTAA MANE Select	NP_060606.3:p.Val284_Asn285insThrPheAsnSerVal
NM_001206846.2:c.853_854insCATTTAATTCTGTAA	NP_001193775.1:p.Val284_Asn285insThrPheAsnSerVal