Canonical Allele Identifier: CA2649660642

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090334-C-CTTTAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090338_197090343dup , CM000663.2:g.197090338_197090343dup	GRCh38
NC_000001.10:g.197059468_197059473dup , CM000663.1:g.197059468_197059473dup	GRCh37
NC_000001.9:g.195326091_195326096dup	NCBI36
NG_015867.1:g.61355_61360dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2972_2977dup
ENST00000367409.9:c.9685_9690dup MANE Select	ENSP00000356379.4:p.Lys3230_Ala3231insIle...
ENST00000680265.1:c.9907_9912dup	ENSP00000505384.1:p.Lys3304_Ala3305insIle...
ENST00000680710.1:c.9661_9666dup	ENSP00000506676.1:p.Lys3222_Ala3223insIle...
ENST00000294732.11:c.4930_4935dup	ENSP00000294732.7:p.Lys1645_Ala1646insIle...
ENST00000367408.5:c.2680_2685dup	ENSP00000356378.1:p.Lys895_Ala896insIleLy...
ENST00000367409.8:c.9685_9690dup	ENSP00000356379.4:p.Lys3230_Ala3231insIle...
ENST00000612785.1:c.3643_3648dup	ENSP00000479244.1:p.Lys1216_Ala1217insIle...
NM_001206846.1:c.4930_4935dup	NP_001193775.1:p.Lys1645_Ala1646insIleLys...
NM_018136.4:c.9685_9690dup	NP_060606.3:p.Lys3230_Ala3231insIleLys
NM_018136.5:c.9685_9690dup MANE Select	NP_060606.3:p.Lys3230_Ala3231insIleLys
NM_001206846.2:c.4930_4935dup	NP_001193775.1:p.Lys1645_Ala1646insIleLys...