Canonical Allele Identifier: CA2698076012

Gene: ASPM

Linked Data

• dbSNP Id: rs2125114006

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142808_197142809insGAACATGAAAAAGTAATAAATAATCAAA , CM000663.2:g.197142808_197142809insGAACATGAAAAAGTAATAAATAATCAAA	GRCh38
NC_000001.10:g.197111938_197111939insGAACATGAAAAAGTAATAAATAATCAAA , CM000663.1:g.197111938_197111939insGAACATGAAAAAGTAATAAATAATCAAA	GRCh37
NC_000001.9:g.195378561_195378562insGAACATGAAAAAGTAATAAATAATCAAA	NCBI36
NG_015867.1:g.8886_8887insTTTGATTATTTATTACTTTTTCATGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1443_1444insTTTGATTATTTATTACTTTTTCATGTTC MANE Select	ENSP00000356379.4:p.Ser482PhefsTer13
ENST00000679766.1:n.1660_1661insTTTGATTATTTATTACTTTTTCATGTTC
ENST00000680265.1:c.1443_1444insTTTGATTATTTATTACTTTTTCATGTTC	ENSP00000505384.1:p.Ser482PhefsTer13
ENST00000680710.1:c.1443_1444insTTTGATTATTTATTACTTTTTCATGTTC	ENSP00000506676.1:p.Ser482PhefsTer13
ENST00000681879.1:c.1443_1444insTTTGATTATTTATTACTTTTTCATGTTC	ENSP00000505363.1:p.Ser482PhefsTer13
ENST00000294732.11:c.1443_1444insTTTGATTATTTATTACTTTTTCATGTTC	ENSP00000294732.7:p.Ser482PhefsTer13
ENST00000367409.8:c.1443_1444insTTTGATTATTTATTACTTTTTCATGTTC	ENSP00000356379.4:p.Ser482PhefsTer13
ENST00000612785.1:c.561+882_561+883insTTTGATTATTTATTACTTTTTCATGTTC	ENSP00000479244.1:n.561+882_561+883insTTTGATTATTTATTACTTTTTCA...
NM_001206846.1:c.1443_1444insTTTGATTATTTATTACTTTTTCATGTTC	NP_001193775.1:p.Ser482PhefsTer13
NM_018136.4:c.1443_1444insTTTGATTATTTATTACTTTTTCATGTTC	NP_060606.3:p.Ser482PhefsTer13
NM_018136.5:c.1443_1444insTTTGATTATTTATTACTTTTTCATGTTC MANE Select	NP_060606.3:p.Ser482PhefsTer13
NM_001206846.2:c.1443_1444insTTTGATTATTTATTACTTTTTCATGTTC	NP_001193775.1:p.Ser482PhefsTer13