Canonical Allele Identifier: CA1217945926

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142898_197142901delinsCAAA , CM000663.2:g.197142898_197142901delinsCAAA	GRCh38
NC_000001.10:g.197112028_197112031delinsCAAA , CM000663.1:g.197112028_197112031delinsCAAA	GRCh37
NC_000001.9:g.195378651_195378654delinsCAAA	NCBI36
NG_015867.1:g.8794_8797delinsTTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1351_1354delinsTTTG MANE Select	ENSP00000356379.4:p.Phe451=
ENST00000679766.1:n.1568_1571delinsTTTG
ENST00000680265.1:c.1351_1354delinsTTTG	ENSP00000505384.1:p.Phe451=
ENST00000680710.1:c.1351_1354delinsTTTG	ENSP00000506676.1:p.Phe451=
ENST00000681879.1:c.1351_1354delinsTTTG	ENSP00000505363.1:p.Phe451=
ENST00000294732.11:c.1351_1354delinsTTTG	ENSP00000294732.7:p.Phe451=
ENST00000367409.8:c.1351_1354delinsTTTG	ENSP00000356379.4:p.Phe451=
ENST00000612785.1:c.561+790_561+793delinsTTTG	ENSP00000479244.1:n.561+790_561+793delins...
NM_001206846.1:c.1351_1354delinsTTTG	NP_001193775.1:p.Phe451=
NM_018136.4:c.1351_1354delinsTTTG	NP_060606.3:p.Phe451=
NM_018136.5:c.1351_1354delinsTTTG MANE Select	NP_060606.3:p.Phe451=
NM_001206846.2:c.1351_1354delinsTTTG	NP_001193775.1:p.Phe451=