Canonical Allele Identifier: CA2649664219

Gene: ASPM

Linked Data

• gnomAD v4: 1-197143235-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143236_197143237del , CM000663.2:g.197143236_197143237del	GRCh38
NC_000001.10:g.197112366_197112367del , CM000663.1:g.197112366_197112367del	GRCh37
NC_000001.9:g.195378989_195378990del	NCBI36
NG_015867.1:g.8458_8459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1015_1016del MANE Select	ENSP00000356379.4:p.Ser339IlefsTer8
ENST00000679766.1:n.1232_1233del
ENST00000680265.1:c.1015_1016del	ENSP00000505384.1:p.Ser339IlefsTer8
ENST00000680710.1:c.1015_1016del	ENSP00000506676.1:p.Ser339IlefsTer8
ENST00000681879.1:c.1015_1016del	ENSP00000505363.1:p.Ser339IlefsTer8
ENST00000294732.11:c.1015_1016del	ENSP00000294732.7:p.Ser339IlefsTer8
ENST00000367409.8:c.1015_1016del	ENSP00000356379.4:p.Ser339IlefsTer8
ENST00000612785.1:c.561+454_561+455del	ENSP00000479244.1:n.561+454_561+455del
NM_001206846.1:c.1015_1016del	NP_001193775.1:p.Ser339IlefsTer8
NM_018136.4:c.1015_1016del	NP_060606.3:p.Ser339IlefsTer8
NM_018136.5:c.1015_1016del MANE Select	NP_060606.3:p.Ser339IlefsTer8
NM_001206846.2:c.1015_1016del	NP_001193775.1:p.Ser339IlefsTer8