Canonical Allele Identifier: CA2747232153

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142828_197142829insTTTT , CM000663.2:g.197142828_197142829insTTTT	GRCh38
NC_000001.10:g.197111958_197111959insTTTT , CM000663.1:g.197111958_197111959insTTTT	GRCh37
NC_000001.9:g.195378581_195378582insTTTT	NCBI36
NG_015867.1:g.8866_8867insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1423_1424insAAAA MANE Select	ENSP00000356379.4:p.Val475GlufsTer7
ENST00000679766.1:n.1640_1641insAAAA
ENST00000680265.1:c.1423_1424insAAAA	ENSP00000505384.1:p.Val475GlufsTer7
ENST00000680710.1:c.1423_1424insAAAA	ENSP00000506676.1:p.Val475GlufsTer7
ENST00000681879.1:c.1423_1424insAAAA	ENSP00000505363.1:p.Val475GlufsTer7
ENST00000294732.11:c.1423_1424insAAAA	ENSP00000294732.7:p.Val475GlufsTer7
ENST00000367409.8:c.1423_1424insAAAA	ENSP00000356379.4:p.Val475GlufsTer7
ENST00000612785.1:c.561+862_561+863insAAAA	ENSP00000479244.1:n.561+862_561+863insAAAA
NM_001206846.1:c.1423_1424insAAAA	NP_001193775.1:p.Val475GlufsTer7
NM_018136.4:c.1423_1424insAAAA	NP_060606.3:p.Val475GlufsTer7
NM_018136.5:c.1423_1424insAAAA MANE Select	NP_060606.3:p.Val475GlufsTer7
NM_001206846.2:c.1423_1424insAAAA	NP_001193775.1:p.Val475GlufsTer7