Canonical Allele Identifier: CA1148224838
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197101115_197101121delinsTTTCTTT , CM000663.2:g.197101115_197101121delinsTTTCTTT GRCh38
NC_000001.10:g.197070245_197070251delinsTTTCTTT , CM000663.1:g.197070245_197070251delinsTTTCTTT GRCh37
NC_000001.9:g.195336868_195336874delinsTTTCTTT NCBI36
NG_015867.1:g.50574_50580delinsAAAGAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-4957_2108-4951delinsAAAGAAA
ENST00000367409.9:c.8130_8136delinsAAAGAAA MANE Select ENSP00000356379.4:p.Thr2710=
ENST00000680265.1:c.8130_8136delinsAAAGAAA ENSP00000505384.1:p.Thr2710=
ENST00000680710.1:c.8130_8136delinsAAAGAAA ENSP00000506676.1:p.Thr2710=
ENST00000294732.11:c.4066-4957_4066-4951delinsAAAGAAA ENSP00000294732.7:n.4066-4957_4066-4951delinsAAAGAAA
ENST00000367408.5:c.1816-4957_1816-4951delinsAAAGAAA ENSP00000356378.1:n.1816-4957_1816-4951delinsAAAGAAA
ENST00000367409.8:c.8130_8136delinsAAAGAAA ENSP00000356379.4:p.Thr2710=
ENST00000612785.1:c.2088_2094delinsAAAGAAA ENSP00000479244.1:p.Thr696=
NM_001206846.1:c.4066-4957_4066-4951delinsAAAGAAA NP_001193775.1:n.4066-4957_4066-4951delinsAAAGAAA
NM_018136.4:c.8130_8136delinsAAAGAAA NP_060606.3:p.Thr2710=
NM_018136.5:c.8130_8136delinsAAAGAAA MANE Select NP_060606.3:p.Thr2710=
NM_001206846.2:c.4066-4957_4066-4951delinsAAAGAAA NP_001193775.1:n.4066-4957_4066-4951delinsAAAGAAA