Canonical Allele Identifier: CA1217945546

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142650_197142654delinsATTAT , CM000663.2:g.197142650_197142654delinsATTAT	GRCh38
NC_000001.10:g.197111780_197111784delinsATTAT , CM000663.1:g.197111780_197111784delinsATTAT	GRCh37
NC_000001.9:g.195378403_195378407delinsATTAT	NCBI36
NG_015867.1:g.9041_9045delinsATAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1598_1602delinsATAAT MANE Select	ENSP00000356379.4:p.Asn533=
ENST00000679766.1:n.1815_1819delinsATAAT
ENST00000680265.1:c.1598_1602delinsATAAT	ENSP00000505384.1:p.Asn533=
ENST00000680710.1:c.1598_1602delinsATAAT	ENSP00000506676.1:p.Asn533=
ENST00000681879.1:c.1598_1602delinsATAAT	ENSP00000505363.1:p.Asn533=
ENST00000294732.11:c.1598_1602delinsATAAT	ENSP00000294732.7:p.Asn533=
ENST00000367409.8:c.1598_1602delinsATAAT	ENSP00000356379.4:p.Asn533=
ENST00000612785.1:c.561+1037_561+1041delinsATAAT	ENSP00000479244.1:n.561+1037_561+1041delinsATAAT
NM_001206846.1:c.1598_1602delinsATAAT	NP_001193775.1:p.Asn533=
NM_018136.4:c.1598_1602delinsATAAT	NP_060606.3:p.Asn533=
NM_018136.5:c.1598_1602delinsATAAT MANE Select	NP_060606.3:p.Asn533=
NM_001206846.2:c.1598_1602delinsATAAT	NP_001193775.1:p.Asn533=