Canonical Allele Identifier: CA1217938523

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122209_197122210delinsGT , CM000663.2:g.197122209_197122210delinsGT	GRCh38
NC_000001.10:g.197091339_197091340delinsGT , CM000663.1:g.197091339_197091340delinsGT	GRCh37
NC_000001.9:g.195357962_195357963delinsGT	NCBI36
NG_015867.1:g.29485_29486delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1732_1733delinsAC
ENST00000367409.9:c.3690_3691delinsAC MANE Select	ENSP00000356379.4:p.Ile1230=
ENST00000680112.1:n.1746_1747delinsAC
ENST00000680265.1:c.3690_3691delinsAC	ENSP00000505384.1:p.Ile1230=
ENST00000680710.1:c.3690_3691delinsAC	ENSP00000506676.1:p.Ile1230=
ENST00000681879.1:c.3690_3691delinsAC	ENSP00000505363.1:p.Ile1230=
ENST00000294732.11:c.3690_3691delinsAC	ENSP00000294732.7:p.Ile1230=
ENST00000367408.5:c.1440_1441delinsAC	ENSP00000356378.1:p.Ile480=
ENST00000367409.8:c.3690_3691delinsAC	ENSP00000356379.4:p.Ile1230=
ENST00000612785.1:c.562-19563_562-19562delinsAC	ENSP00000479244.1:n.562-19563_562-19562delinsAC
NM_001206846.1:c.3690_3691delinsAC	NP_001193775.1:p.Ile1230=
NM_018136.4:c.3690_3691delinsAC	NP_060606.3:p.Ile1230=
NM_018136.5:c.3690_3691delinsAC MANE Select	NP_060606.3:p.Ile1230=
NM_001206846.2:c.3690_3691delinsAC	NP_001193775.1:p.Ile1230=