Canonical Allele Identifier: CA2649662283

Gene: ASPM

Linked Data

• gnomAD v4: 1-197123973-T-TCCCTCAAATGAGTGAATGTATTATCATA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197123974_197123975insCCTCAAATGAGTGAATGTATTATCATAC , CM000663.2:g.197123974_197123975insCCTCAAATGAGTGAATGTATTATCATAC	GRCh38
NC_000001.10:g.197093104_197093105insCCTCAAATGAGTGAATGTATTATCATAC , CM000663.1:g.197093104_197093105insCCTCAAATGAGTGAATGTATTATCATAC	GRCh37
NC_000001.9:g.195359727_195359728insCCTCAAATGAGTGAATGTATTATCATAC	NCBI36
NG_015867.1:g.27721_27722insTATGATAATACATTCACTCATTTGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1432+136_1432+137insTATGATAATACATTCACTCATTTGAGGG
ENST00000367409.9:c.3390+136_3390+137insTATGATAATACATTCACTCATTTGAGGG MANE Select	ENSP00000356379.4:n.3390+136_3390+137insTATGATAATACATTCACTCAT...
ENST00000680112.1:n.1446+136_1446+137insTATGATAATACATTCACTCATTTGAGGG
ENST00000680265.1:c.3390+136_3390+137insTATGATAATACATTCACTCATTTGAGGG	ENSP00000505384.1:n.3390+136_3390+137insTATGATAATACATTCACTCAT...
ENST00000680710.1:c.3390+136_3390+137insTATGATAATACATTCACTCATTTGAGGG	ENSP00000506676.1:n.3390+136_3390+137insTATGATAATACATTCACTCAT...
ENST00000681879.1:c.3390+136_3390+137insTATGATAATACATTCACTCATTTGAGGG	ENSP00000505363.1:n.3390+136_3390+137insTATGATAATACATTCACTCAT...
ENST00000294732.11:c.3390+136_3390+137insTATGATAATACATTCACTCATTTGAGGG	ENSP00000294732.7:n.3390+136_3390+137insTATGATAATACATTCACTCAT...
ENST00000367408.5:c.1140+136_1140+137insTATGATAATACATTCACTCATTTGAGGG	ENSP00000356378.1:n.1140+136_1140+137insTATGATAATACATTCACTCAT...
ENST00000367409.8:c.3390+136_3390+137insTATGATAATACATTCACTCATTTGAGGG	ENSP00000356379.4:n.3390+136_3390+137insTATGATAATACATTCACTCAT...
ENST00000612785.1:c.561+19717_561+19718insTATGATAATACATTCACTCATTTGAGGG	ENSP00000479244.1:n.561+19717_561+19718insTATGATAATACATTCACTC...
NM_001206846.1:c.3390+136_3390+137insTATGATAATACATTCACTCATTTGAGGG	NP_001193775.1:n.3390+136_3390+137insTATGATAATACATTCACTCATTTG...
NM_018136.4:c.3390+136_3390+137insTATGATAATACATTCACTCATTTGAGGG	NP_060606.3:n.3390+136_3390+137insTATGATAATACATTCACTCATTTGAGG...
NM_018136.5:c.3390+136_3390+137insTATGATAATACATTCACTCATTTGAGGG MANE Select	NP_060606.3:n.3390+136_3390+137insTATGATAATACATTCACTCATTTGAGG...
NM_001206846.2:c.3390+136_3390+137insTATGATAATACATTCACTCATTTGAGGG	NP_001193775.1:n.3390+136_3390+137insTATGATAATACATTCACTCATTTG...