Canonical Allele Identifier: CA2747243805

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122303_197122388del , CM000663.2:g.197122303_197122388del	GRCh38
NC_000001.10:g.197091433_197091518del , CM000663.1:g.197091433_197091518del	GRCh37
NC_000001.9:g.195358056_195358141del	NCBI36
NG_015867.1:g.29308_29393del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1640+1_1641-1del
ENST00000367409.9:c.3598+1_3599-1del
ENST00000680112.1:n.1654+1_1655-1del
ENST00000680265.1:c.3598+1_3599-1del
ENST00000680710.1:c.3598+1_3599-1del
ENST00000681879.1:c.3598+1_3599-1del
ENST00000294732.11:c.3598+1_3599-1del
ENST00000367408.5:c.1348+1_1349-1del
ENST00000367409.8:c.3598+1_3599-1del
ENST00000612785.1:c.562-19740_562-19655del	ENSP00000479244.1:n.562-19740_562-19655del
NM_001206846.1:c.3598+1_3599-1del
NM_018136.4:c.3598+1_3599-1del
NM_018136.5:c.3598+1_3599-1del
NM_001206846.2:c.3598+1_3599-1del