Canonical Allele Identifier: CA1217945868

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142864_197142866delinsCTG , CM000663.2:g.197142864_197142866delinsCTG	GRCh38
NC_000001.10:g.197111994_197111996delinsCTG , CM000663.1:g.197111994_197111996delinsCTG	GRCh37
NC_000001.9:g.195378617_195378619delinsCTG	NCBI36
NG_015867.1:g.8829_8831delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1386_1388delinsCAG MANE Select	ENSP00000356379.4:p.Tyr462=
ENST00000679766.1:n.1603_1605delinsCAG
ENST00000680265.1:c.1386_1388delinsCAG	ENSP00000505384.1:p.Tyr462=
ENST00000680710.1:c.1386_1388delinsCAG	ENSP00000506676.1:p.Tyr462=
ENST00000681879.1:c.1386_1388delinsCAG	ENSP00000505363.1:p.Tyr462=
ENST00000294732.11:c.1386_1388delinsCAG	ENSP00000294732.7:p.Tyr462=
ENST00000367409.8:c.1386_1388delinsCAG	ENSP00000356379.4:p.Tyr462=
ENST00000612785.1:c.561+825_561+827delinsCAG	ENSP00000479244.1:n.561+825_561+827delinsCAG
NM_001206846.1:c.1386_1388delinsCAG	NP_001193775.1:p.Tyr462=
NM_018136.4:c.1386_1388delinsCAG	NP_060606.3:p.Tyr462=
NM_018136.5:c.1386_1388delinsCAG MANE Select	NP_060606.3:p.Tyr462=
NM_001206846.2:c.1386_1388delinsCAG	NP_001193775.1:p.Tyr462=