Canonical Allele Identifier: CA2747239575

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090391_197090392insTCTAGTGGCGCAGCTAGTGATCTTTTCCTGTCTTCTGCAGAGGAG , CM000663.2:g.197090391_197090392insTCTAGTGGCGCAGCTAGTGATCTTTTCCTGTCTTCTGCAGAGGAG	GRCh38
NC_000001.10:g.197059521_197059522insTCTAGTGGCGCAGCTAGTGATCTTTTCCTGTCTTCTGCAGAGGAG , CM000663.1:g.197059521_197059522insTCTAGTGGCGCAGCTAGTGATCTTTTCCTGTCTTCTGCAGAGGAG	GRCh37
NC_000001.9:g.195326144_195326145insTCTAGTGGCGCAGCTAGTGATCTTTTCCTGTCTTCTGCAGAGGAG	NCBI36
NG_015867.1:g.61303_61304insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2924-4_2924-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA
ENST00000367409.9:c.9637-4_9637-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA MANE Select	ENSP00000356379.4:n.9637-4_9637-3insCTCCTCTGCAGAAGACAGGAAAAGA...
ENST00000680265.1:c.9859-4_9859-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA	ENSP00000505384.1:n.9859-4_9859-3insCTCCTCTGCAGAAGACAGGAAAAGA...
ENST00000680710.1:c.9613-4_9613-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA	ENSP00000506676.1:n.9613-4_9613-3insCTCCTCTGCAGAAGACAGGAAAAGA...
ENST00000294732.11:c.4882-4_4882-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA	ENSP00000294732.7:n.4882-4_4882-3insCTCCTCTGCAGAAGACAGGAAAAGA...
ENST00000367408.5:c.2632-4_2632-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA	ENSP00000356378.1:n.2632-4_2632-3insCTCCTCTGCAGAAGACAGGAAAAGA...
ENST00000367409.8:c.9637-4_9637-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA	ENSP00000356379.4:n.9637-4_9637-3insCTCCTCTGCAGAAGACAGGAAAAGA...
ENST00000612785.1:c.3595-4_3595-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA	ENSP00000479244.1:n.3595-4_3595-3insCTCCTCTGCAGAAGACAGGAAAAGA...
NM_001206846.1:c.4882-4_4882-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA	NP_001193775.1:n.4882-4_4882-3insCTCCTCTGCAGAAGACAGGAAAAGATCA...
NM_018136.4:c.9637-4_9637-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA	NP_060606.3:n.9637-4_9637-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTA...
NM_018136.5:c.9637-4_9637-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA MANE Select	NP_060606.3:n.9637-4_9637-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTA...
NM_001206846.2:c.4882-4_4882-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA	NP_001193775.1:n.4882-4_4882-3insCTCCTCTGCAGAAGACAGGAAAAGATCA...