Canonical Allele Identifier: CA1143355925

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101468_197101470delinsTCT , CM000663.2:g.197101468_197101470delinsTCT	GRCh38
NC_000001.10:g.197070598_197070600delinsTCT , CM000663.1:g.197070598_197070600delinsTCT	GRCh37
NC_000001.9:g.195337221_195337223delinsTCT	NCBI36
NG_015867.1:g.50225_50227delinsAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5306_2108-5304delinsAGA
ENST00000367409.9:c.7781_7783delinsAGA MANE Select	ENSP00000356379.4:p.Gln2594=
ENST00000680265.1:c.7781_7783delinsAGA	ENSP00000505384.1:p.Gln2594=
ENST00000680710.1:c.7781_7783delinsAGA	ENSP00000506676.1:p.Gln2594=
ENST00000294732.11:c.4066-5306_4066-5304delinsAGA	ENSP00000294732.7:n.4066-5306_4066-5304delinsAGA
ENST00000367408.5:c.1816-5306_1816-5304delinsAGA	ENSP00000356378.1:n.1816-5306_1816-5304delinsAGA
ENST00000367409.8:c.7781_7783delinsAGA	ENSP00000356379.4:p.Gln2594=
ENST00000612785.1:c.1739_1741delinsAGA	ENSP00000479244.1:p.Gln580=
NM_001206846.1:c.4066-5306_4066-5304delinsAGA	NP_001193775.1:n.4066-5306_4066-5304delinsAGA
NM_018136.4:c.7781_7783delinsAGA	NP_060606.3:p.Gln2594=
NM_018136.5:c.7781_7783delinsAGA MANE Select	NP_060606.3:p.Gln2594=
NM_001206846.2:c.4066-5306_4066-5304delinsAGA	NP_001193775.1:n.4066-5306_4066-5304delinsAGA