Canonical Allele Identifier: CA2649661168

Gene: ASPM

Linked Data

• gnomAD v4: 1-197093189-TCTGCCGAAGAAAGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093195_197093209del , CM000663.2:g.197093195_197093209del	GRCh38
NC_000001.10:g.197062325_197062339del , CM000663.1:g.197062325_197062339del	GRCh37
NC_000001.9:g.195328948_195328962del	NCBI36
NG_015867.1:g.58491_58505del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2429_2443del
ENST00000367409.9:c.9142_9156del MANE Select	ENSP00000356379.4:p.Val3048_Gln3052del
ENST00000680265.1:c.9364_9378del	ENSP00000505384.1:p.Val3122_Gln3126del
ENST00000680710.1:c.9142_9156del	ENSP00000506676.1:p.Val3048_Gln3052del
ENST00000294732.11:c.4387_4401del	ENSP00000294732.7:p.Val1463_Gln1467del
ENST00000367408.5:c.2137_2151del	ENSP00000356378.1:p.Val713_Gln717del
ENST00000367409.8:c.9142_9156del	ENSP00000356379.4:p.Val3048_Gln3052del
ENST00000612785.1:c.3100_3114del	ENSP00000479244.1:p.Val1034_Gln1038del
NM_001206846.1:c.4387_4401del	NP_001193775.1:p.Val1463_Gln1467del
NM_018136.4:c.9142_9156del	NP_060606.3:p.Val3048_Gln3052del
NM_018136.5:c.9142_9156del MANE Select	NP_060606.3:p.Val3048_Gln3052del
NM_001206846.2:c.4387_4401del	NP_001193775.1:p.Val1463_Gln1467del