Canonical Allele Identifier: CA1010898888

Gene: ASPM

Linked Data

• dbSNP Id: rs1658003852
• gnomAD v3: 1-197124160-TTA-T
• gnomAD v4: 1-197124160-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124162_197124163del , CM000663.2:g.197124162_197124163del	GRCh38
NC_000001.10:g.197093292_197093293del , CM000663.1:g.197093292_197093293del	GRCh37
NC_000001.9:g.195359915_195359916del	NCBI36
NG_015867.1:g.27533_27534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1380_1381del
ENST00000367409.9:c.3338_3339del MANE Select	ENSP00000356379.4:p.Ile1113LysfsTer15
ENST00000680112.1:n.1394_1395del
ENST00000680265.1:c.3338_3339del	ENSP00000505384.1:p.Ile1113LysfsTer15
ENST00000680710.1:c.3338_3339del	ENSP00000506676.1:p.Ile1113LysfsTer15
ENST00000681879.1:c.3338_3339del	ENSP00000505363.1:p.Ile1113LysfsTer15
ENST00000294732.11:c.3338_3339del	ENSP00000294732.7:p.Ile1113LysfsTer15
ENST00000367408.5:c.1088_1089del	ENSP00000356378.1:p.Ile363LysfsTer15
ENST00000367409.8:c.3338_3339del	ENSP00000356379.4:p.Ile1113LysfsTer15
ENST00000612785.1:c.561+19529_561+19530del	ENSP00000479244.1:n.561+19529_561+19530del
NM_001206846.1:c.3338_3339del	NP_001193775.1:p.Ile1113LysfsTer15
NM_018136.4:c.3338_3339del	NP_060606.3:p.Ile1113LysfsTer15
NM_018136.5:c.3338_3339del MANE Select	NP_060606.3:p.Ile1113LysfsTer15
NM_001206846.2:c.3338_3339del	NP_001193775.1:p.Ile1113LysfsTer15