Canonical Allele Identifier: CA2747239791

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101608_197101609insTTTTT , CM000663.2:g.197101608_197101609insTTTTT	GRCh38
NC_000001.10:g.197070738_197070739insTTTTT , CM000663.1:g.197070738_197070739insTTTTT	GRCh37
NC_000001.9:g.195337361_195337362insTTTTT	NCBI36
NG_015867.1:g.50088_50089insAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5443_2108-5442insAAAAA
ENST00000367409.9:c.7644_7645insAAAAA MANE Select	ENSP00000356379.4:p.Leu2549LysfsTer4
ENST00000680265.1:c.7644_7645insAAAAA	ENSP00000505384.1:p.Leu2549LysfsTer4
ENST00000680710.1:c.7644_7645insAAAAA	ENSP00000506676.1:p.Leu2549LysfsTer4
ENST00000294732.11:c.4066-5443_4066-5442insAAAAA	ENSP00000294732.7:n.4066-5443_4066-5442insAAAAA
ENST00000367408.5:c.1816-5443_1816-5442insAAAAA	ENSP00000356378.1:n.1816-5443_1816-5442insAAAAA
ENST00000367409.8:c.7644_7645insAAAAA	ENSP00000356379.4:p.Leu2549LysfsTer4
ENST00000612785.1:c.1602_1603insAAAAA	ENSP00000479244.1:p.Leu535LysfsTer4
NM_001206846.1:c.4066-5443_4066-5442insAAAAA	NP_001193775.1:n.4066-5443_4066-5442insAAAAA
NM_018136.4:c.7644_7645insAAAAA	NP_060606.3:p.Leu2549LysfsTer4
NM_018136.5:c.7644_7645insAAAAA MANE Select	NP_060606.3:p.Leu2549LysfsTer4
NM_001206846.2:c.4066-5443_4066-5442insAAAAA	NP_001193775.1:n.4066-5443_4066-5442insAAAAA