Canonical Allele Identifier: CA271008

Gene: ASPM

Linked Data

• dbSNP Id: rs587783221
• gnomAD v4: 1-197142522-CTCTT-C
• MyVariant Identifiers: chr1:g.197111653_197111656del (hg19) ; chr1:g.197142523_197142526del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142528_197142531del , CM000663.2:g.197142528_197142531del	GRCh38
NC_000001.10:g.197111658_197111661del , CM000663.1:g.197111658_197111661del	GRCh37
NC_000001.9:g.195378281_195378284del	NCBI36
NG_015867.1:g.9169_9172del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1726_1729del MANE Select	ENSP00000356379.4:p.Lys576AlafsTer10
ENST00000679766.1:n.1943_1946del
ENST00000680265.1:c.1726_1729del	ENSP00000505384.1:p.Lys576AlafsTer10
ENST00000680710.1:c.1726_1729del	ENSP00000506676.1:p.Lys576AlafsTer10
ENST00000681879.1:c.1726_1729del	ENSP00000505363.1:p.Lys576AlafsTer10
ENST00000294732.11:c.1726_1729del	ENSP00000294732.7:p.Lys576AlafsTer10
ENST00000367409.8:c.1726_1729del	ENSP00000356379.4:p.Lys576AlafsTer10
ENST00000612785.1:c.561+1165_561+1168del	ENSP00000479244.1:n.561+1165_561+1168del
NM_001206846.1:c.1726_1729del	NP_001193775.1:p.Lys576AlafsTer10
NM_018136.4:c.1726_1729del	NP_060606.3:p.Lys576AlafsTer10
NM_018136.5:c.1726_1729del MANE Select	NP_060606.3:p.Lys576AlafsTer10
NM_001206846.2:c.1726_1729del	NP_001193775.1:p.Lys576AlafsTer10