Canonical Allele Identifier: CA1310218

Gene: ASPM

Linked Data

• dbSNP Id: rs752679324
• ExAC: 1:197093399 CTT / C
• gnomAD v2: 1-197093399-CTT-C
• gnomAD v4: 1-197124269-CTT-C
• MyVariant Identifiers: chr1:g.197093400_197093401del (hg19) ; chr1:g.197124270_197124271del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124271_197124272del , CM000663.2:g.197124271_197124272del	GRCh38
NC_000001.10:g.197093401_197093402del , CM000663.1:g.197093401_197093402del	GRCh37
NC_000001.9:g.195360024_195360025del	NCBI36
NG_015867.1:g.27424_27425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1271_1272del
ENST00000367409.9:c.3229_3230del MANE Select	ENSP00000356379.4:p.Lys1077GlufsTer14
ENST00000680112.1:n.1285_1286del
ENST00000680265.1:c.3229_3230del	ENSP00000505384.1:p.Lys1077GlufsTer14
ENST00000680710.1:c.3229_3230del	ENSP00000506676.1:p.Lys1077GlufsTer14
ENST00000681879.1:c.3229_3230del	ENSP00000505363.1:p.Lys1077GlufsTer14
ENST00000294732.11:c.3229_3230del	ENSP00000294732.7:p.Lys1077GlufsTer14
ENST00000367408.5:c.979_980del	ENSP00000356378.1:p.Lys327GlufsTer14
ENST00000367409.8:c.3229_3230del	ENSP00000356379.4:p.Lys1077GlufsTer14
ENST00000612785.1:c.561+19420_561+19421del	ENSP00000479244.1:n.561+19420_561+19421del
NM_001206846.1:c.3229_3230del	NP_001193775.1:p.Lys1077GlufsTer14
NM_018136.4:c.3229_3230del	NP_060606.3:p.Lys1077GlufsTer14
NM_018136.5:c.3229_3230del MANE Select	NP_060606.3:p.Lys1077GlufsTer14
NM_001206846.2:c.3229_3230del	NP_001193775.1:p.Lys1077GlufsTer14