Canonical Allele Identifier: CA1143355882

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197139831_197139841delinsTTTGTTTGTTT , CM000663.2:g.197139831_197139841delinsTTTGTTTGTTT	GRCh38
NC_000001.10:g.197108961_197108971delinsTTTGTTTGTTT , CM000663.1:g.197108961_197108971delinsTTTGTTTGTTT	GRCh37
NC_000001.9:g.195375584_195375594delinsTTTGTTTGTTT	NCBI36
NG_015867.1:g.11854_11864delinsAAACAAACAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1952_1962delinsAAACAAACAAA MANE Select	ENSP00000356379.4:p.Lys651=
ENST00000679766.1:n.2169_2179delinsAAACAAACAAA
ENST00000680112.1:n.8_18delinsAAACAAACAAA
ENST00000680265.1:c.1952_1962delinsAAACAAACAAA	ENSP00000505384.1:p.Lys651=
ENST00000680710.1:c.1952_1962delinsAAACAAACAAA	ENSP00000506676.1:p.Lys651=
ENST00000681879.1:c.1952_1962delinsAAACAAACAAA	ENSP00000505363.1:p.Lys651=
ENST00000294732.11:c.1952_1962delinsAAACAAACAAA	ENSP00000294732.7:p.Lys651=
ENST00000367409.8:c.1952_1962delinsAAACAAACAAA	ENSP00000356379.4:p.Lys651=
ENST00000612785.1:c.561+3850_561+3860delinsAAACAAACAAA	ENSP00000479244.1:n.561+3850_561+3860deli...
NM_001206846.1:c.1952_1962delinsAAACAAACAAA	NP_001193775.1:p.Lys651=
NM_018136.4:c.1952_1962delinsAAACAAACAAA	NP_060606.3:p.Lys651=
NM_018136.5:c.1952_1962delinsAAACAAACAAA MANE Select	NP_060606.3:p.Lys651=
NM_001206846.2:c.1952_1962delinsAAACAAACAAA	NP_001193775.1:p.Lys651=