Canonical Allele Identifier: CA2561913960

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102575_197102576insGAGCTTT , CM000663.2:g.197102575_197102576insGAGCTTT	GRCh38
NC_000001.10:g.197071705_197071706insGAGCTTT , CM000663.1:g.197071705_197071706insGAGCTTT	GRCh37
NC_000001.9:g.195338328_195338329insGAGCTTT	NCBI36
NG_015867.1:g.49120_49121insAAGCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6411_2108-6410insAAGCTCA
ENST00000367409.9:c.6676_6677insAAGCTCA MANE Select	ENSP00000356379.4:p.Met2226LysfsTer14
ENST00000680265.1:c.6676_6677insAAGCTCA	ENSP00000505384.1:p.Met2226LysfsTer14
ENST00000680710.1:c.6676_6677insAAGCTCA	ENSP00000506676.1:p.Met2226LysfsTer14
ENST00000294732.11:c.4066-6411_4066-6410insAAGCTCA	ENSP00000294732.7:n.4066-6411_4066-6410insAAGCTCA
ENST00000367408.5:c.1816-6411_1816-6410insAAGCTCA	ENSP00000356378.1:n.1816-6411_1816-6410insAAGCTCA
ENST00000367409.8:c.6676_6677insAAGCTCA	ENSP00000356379.4:p.Met2226LysfsTer14
ENST00000612785.1:c.634_635insAAGCTCA	ENSP00000479244.1:p.Met212LysfsTer14
NM_001206846.1:c.4066-6411_4066-6410insAAGCTCA	NP_001193775.1:n.4066-6411_4066-6410insAAGCTCA
NM_018136.4:c.6676_6677insAAGCTCA	NP_060606.3:p.Met2226LysfsTer14
NM_018136.5:c.6676_6677insAAGCTCA MANE Select	NP_060606.3:p.Met2226LysfsTer14
NM_001206846.2:c.4066-6411_4066-6410insAAGCTCA	NP_001193775.1:n.4066-6411_4066-6410insAAGCTCA