Canonical Allele Identifier: CA1217946614
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197143446_197143448delinsACT , CM000663.2:g.197143446_197143448delinsACT GRCh38
NC_000001.10:g.197112576_197112578delinsACT , CM000663.1:g.197112576_197112578delinsACT GRCh37
NC_000001.9:g.195379199_195379201delinsACT NCBI36
NG_015867.1:g.8247_8249delinsAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.804_806delinsAGT MANE Select ENSP00000356379.4:p.Lys268=
ENST00000679766.1:n.1021_1023delinsAGT
ENST00000680265.1:c.804_806delinsAGT ENSP00000505384.1:p.Lys268=
ENST00000680710.1:c.804_806delinsAGT ENSP00000506676.1:p.Lys268=
ENST00000681879.1:c.804_806delinsAGT ENSP00000505363.1:p.Lys268=
ENST00000294732.11:c.804_806delinsAGT ENSP00000294732.7:p.Lys268=
ENST00000367409.8:c.804_806delinsAGT ENSP00000356379.4:p.Lys268=
ENST00000612785.1:c.561+243_561+245delinsAGT ENSP00000479244.1:n.561+243_561+245delinsAGT
NM_001206846.1:c.804_806delinsAGT NP_001193775.1:p.Lys268=
NM_018136.4:c.804_806delinsAGT NP_060606.3:p.Lys268=
NM_018136.5:c.804_806delinsAGT MANE Select NP_060606.3:p.Lys268=
NM_001206846.2:c.804_806delinsAGT NP_001193775.1:p.Lys268=