Canonical Allele Identifier: CA1217945565

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142661_197142662delinsCT , CM000663.2:g.197142661_197142662delinsCT	GRCh38
NC_000001.10:g.197111791_197111792delinsCT , CM000663.1:g.197111791_197111792delinsCT	GRCh37
NC_000001.9:g.195378414_195378415delinsCT	NCBI36
NG_015867.1:g.9033_9034delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1590_1591delinsAG MANE Select	ENSP00000356379.4:p.Lys530=
ENST00000679766.1:n.1807_1808delinsAG
ENST00000680265.1:c.1590_1591delinsAG	ENSP00000505384.1:p.Lys530=
ENST00000680710.1:c.1590_1591delinsAG	ENSP00000506676.1:p.Lys530=
ENST00000681879.1:c.1590_1591delinsAG	ENSP00000505363.1:p.Lys530=
ENST00000294732.11:c.1590_1591delinsAG	ENSP00000294732.7:p.Lys530=
ENST00000367409.8:c.1590_1591delinsAG	ENSP00000356379.4:p.Lys530=
ENST00000612785.1:c.561+1029_561+1030delinsAG	ENSP00000479244.1:n.561+1029_561+1030deli...
NM_001206846.1:c.1590_1591delinsAG	NP_001193775.1:p.Lys530=
NM_018136.4:c.1590_1591delinsAG	NP_060606.3:p.Lys530=
NM_018136.5:c.1590_1591delinsAG MANE Select	NP_060606.3:p.Lys530=
NM_001206846.2:c.1590_1591delinsAG	NP_001193775.1:p.Lys530=