Canonical Allele Identifier: CA1217938607
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197122501_197122503delinsCAT , CM000663.2:g.197122501_197122503delinsCAT GRCh38
NC_000001.10:g.197091631_197091633delinsCAT , CM000663.1:g.197091631_197091633delinsCAT GRCh37
NC_000001.9:g.195358254_195358256delinsCAT NCBI36
NG_015867.1:g.29192_29194delinsATG

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.1525_1527delinsATG
ENST00000367409.9:c.3483_3485delinsATG MANE Select ENSP00000356379.4:p.Ile1161=
ENST00000680112.1:n.1539_1541delinsATG
ENST00000680265.1:c.3483_3485delinsATG ENSP00000505384.1:p.Ile1161=
ENST00000680710.1:c.3483_3485delinsATG ENSP00000506676.1:p.Ile1161=
ENST00000681879.1:c.3483_3485delinsATG ENSP00000505363.1:p.Ile1161=
ENST00000294732.11:c.3483_3485delinsATG ENSP00000294732.7:p.Ile1161=
ENST00000367408.5:c.1233_1235delinsATG ENSP00000356378.1:p.Ile411=
ENST00000367409.8:c.3483_3485delinsATG ENSP00000356379.4:p.Ile1161=
ENST00000612785.1:c.562-19856_562-19854delinsATG ENSP00000479244.1:n.562-19856_562-19854delinsATG
NM_001206846.1:c.3483_3485delinsATG NP_001193775.1:p.Ile1161=
NM_018136.4:c.3483_3485delinsATG NP_060606.3:p.Ile1161=
NM_018136.5:c.3483_3485delinsATG MANE Select NP_060606.3:p.Ile1161=
NM_001206846.2:c.3483_3485delinsATG NP_001193775.1:p.Ile1161=