Canonical Allele Identifier: CA2649660797

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090752-G-GCCGGTAGTATAGTGCTTATGAGTTATTCTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090753_197090754insCGGTAGTATAGTGCTTATGAGTTATTCTACC , CM000663.2:g.197090753_197090754insCGGTAGTATAGTGCTTATGAGTTATTCTACC	GRCh38
NC_000001.10:g.197059883_197059884insCGGTAGTATAGTGCTTATGAGTTATTCTACC , CM000663.1:g.197059883_197059884insCGGTAGTATAGTGCTTATGAGTTATTCTACC	GRCh37
NC_000001.9:g.195326506_195326507insCGGTAGTATAGTGCTTATGAGTTATTCTACC	NCBI36
NG_015867.1:g.60942_60943insGTAGAATAACTCATAAGCACTATACTACCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2923+97_2923+98insGTAGAATAACTCATAAGCACTATACTACCGG
ENST00000367409.9:c.9636+97_9636+98insGTAGAATAACTCATAAGCACTATACTACCGG MANE Select	ENSP00000356379.4:n.9636+97_9636+98insGTAGAATAACTCATAAGCACTAT...
ENST00000680265.1:c.9858+97_9858+98insGTAGAATAACTCATAAGCACTATACTACCGG	ENSP00000505384.1:n.9858+97_9858+98insGTAGAATAACTCATAAGCACTAT...
ENST00000680710.1:c.9612+97_9612+98insGTAGAATAACTCATAAGCACTATACTACCGG	ENSP00000506676.1:n.9612+97_9612+98insGTAGAATAACTCATAAGCACTAT...
ENST00000294732.11:c.4881+97_4881+98insGTAGAATAACTCATAAGCACTATACTACCGG	ENSP00000294732.7:n.4881+97_4881+98insGTAGAATAACTCATAAGCACTAT...
ENST00000367408.5:c.2631+97_2631+98insGTAGAATAACTCATAAGCACTATACTACCGG	ENSP00000356378.1:n.2631+97_2631+98insGTAGAATAACTCATAAGCACTAT...
ENST00000367409.8:c.9636+97_9636+98insGTAGAATAACTCATAAGCACTATACTACCGG	ENSP00000356379.4:n.9636+97_9636+98insGTAGAATAACTCATAAGCACTAT...
ENST00000612785.1:c.3594+97_3594+98insGTAGAATAACTCATAAGCACTATACTACCGG	ENSP00000479244.1:n.3594+97_3594+98insGTAGAATAACTCATAAGCACTAT...
NM_001206846.1:c.4881+97_4881+98insGTAGAATAACTCATAAGCACTATACTACCGG	NP_001193775.1:n.4881+97_4881+98insGTAGAATAACTCATAAGCACTATACT...
NM_018136.4:c.9636+97_9636+98insGTAGAATAACTCATAAGCACTATACTACCGG	NP_060606.3:n.9636+97_9636+98insGTAGAATAACTCATAAGCACTATACTACC...
NM_018136.5:c.9636+97_9636+98insGTAGAATAACTCATAAGCACTATACTACCGG MANE Select	NP_060606.3:n.9636+97_9636+98insGTAGAATAACTCATAAGCACTATACTACC...
NM_001206846.2:c.4881+97_4881+98insGTAGAATAACTCATAAGCACTATACTACCGG	NP_001193775.1:n.4881+97_4881+98insGTAGAATAACTCATAAGCACTATACT...