Canonical Allele Identifier: CA1148224858
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142523_197142531delinsTCTTTCTTT , CM000663.2:g.197142523_197142531delinsTCTTTCTTT GRCh38
NC_000001.10:g.197111653_197111661delinsTCTTTCTTT , CM000663.1:g.197111653_197111661delinsTCTTTCTTT GRCh37
NC_000001.9:g.195378276_195378284delinsTCTTTCTTT NCBI36
NG_015867.1:g.9164_9172delinsAAAGAAAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.1721_1729delinsAAAGAAAGA MANE Select ENSP00000356379.4:p.Lys574=
ENST00000679766.1:n.1938_1946delinsAAAGAAAGA
ENST00000680265.1:c.1721_1729delinsAAAGAAAGA ENSP00000505384.1:p.Lys574=
ENST00000680710.1:c.1721_1729delinsAAAGAAAGA ENSP00000506676.1:p.Lys574=
ENST00000681879.1:c.1721_1729delinsAAAGAAAGA ENSP00000505363.1:p.Lys574=
ENST00000294732.11:c.1721_1729delinsAAAGAAAGA ENSP00000294732.7:p.Lys574=
ENST00000367409.8:c.1721_1729delinsAAAGAAAGA ENSP00000356379.4:p.Lys574=
ENST00000612785.1:c.561+1160_561+1168delinsAAAGAAAGA ENSP00000479244.1:n.561+1160_561+1168deli...
NM_001206846.1:c.1721_1729delinsAAAGAAAGA NP_001193775.1:p.Lys574=
NM_018136.4:c.1721_1729delinsAAAGAAAGA NP_060606.3:p.Lys574=
NM_018136.5:c.1721_1729delinsAAAGAAAGA MANE Select NP_060606.3:p.Lys574=
NM_001206846.2:c.1721_1729delinsAAAGAAAGA NP_001193775.1:p.Lys574=