Canonical Allele Identifier: CA1148224868

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143615_197143616delinsTT , CM000663.2:g.197143615_197143616delinsTT	GRCh38
NC_000001.10:g.197112745_197112746delinsTT , CM000663.1:g.197112745_197112746delinsTT	GRCh37
NC_000001.9:g.195379368_195379369delinsTT	NCBI36
NG_015867.1:g.8079_8080delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.636_637delinsAA MANE Select	ENSP00000356379.4:p.Leu212=
ENST00000679766.1:n.853_854delinsAA
ENST00000680265.1:c.636_637delinsAA	ENSP00000505384.1:p.Leu212=
ENST00000680710.1:c.636_637delinsAA	ENSP00000506676.1:p.Leu212=
ENST00000681879.1:c.636_637delinsAA	ENSP00000505363.1:p.Leu212=
ENST00000294732.11:c.636_637delinsAA	ENSP00000294732.7:p.Leu212=
ENST00000367409.8:c.636_637delinsAA	ENSP00000356379.4:p.Leu212=
ENST00000612785.1:c.561+75_561+76delinsAA	ENSP00000479244.1:n.561+75_561+76delinsAA
NM_001206846.1:c.636_637delinsAA	NP_001193775.1:p.Leu212=
NM_018136.4:c.636_637delinsAA	NP_060606.3:p.Leu212=
NM_018136.5:c.636_637delinsAA MANE Select	NP_060606.3:p.Leu212=
NM_001206846.2:c.636_637delinsAA	NP_001193775.1:p.Leu212=