Canonical Allele Identifier: CA2747241269

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142401dup , CM000663.2:g.197142401dup	GRCh38
NC_000001.10:g.197111531dup , CM000663.1:g.197111531dup	GRCh37
NC_000001.9:g.195378154dup	NCBI36
NG_015867.1:g.9299dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1856dup MANE Select	ENSP00000356379.4:p.Asn619LysfsTer11
ENST00000679766.1:n.2073dup
ENST00000680265.1:c.1856dup	ENSP00000505384.1:p.Asn619LysfsTer11
ENST00000680710.1:c.1856dup	ENSP00000506676.1:p.Asn619LysfsTer11
ENST00000681879.1:c.1856dup	ENSP00000505363.1:p.Asn619LysfsTer11
ENST00000294732.11:c.1856dup	ENSP00000294732.7:p.Asn619LysfsTer11
ENST00000367409.8:c.1856dup	ENSP00000356379.4:p.Asn619LysfsTer11
ENST00000612785.1:c.561+1295dup	ENSP00000479244.1:n.561+1295dup
NM_001206846.1:c.1856dup	NP_001193775.1:p.Asn619LysfsTer11
NM_018136.4:c.1856dup	NP_060606.3:p.Asn619LysfsTer11
NM_018136.5:c.1856dup MANE Select	NP_060606.3:p.Asn619LysfsTer11
NM_001206846.2:c.1856dup	NP_001193775.1:p.Asn619LysfsTer11