Canonical Allele Identifier: CA1010894091

Gene: ASPM

Linked Data

• dbSNP Id: rs1658603792
• gnomAD v3: 1-197142125-GAACAT-G
• gnomAD v4: 1-197142125-GAACAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142127_197142131del , CM000663.2:g.197142127_197142131del	GRCh38
NC_000001.10:g.197111257_197111261del , CM000663.1:g.197111257_197111261del	GRCh37
NC_000001.9:g.195377880_195377884del	NCBI36
NG_015867.1:g.9565_9569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1921+201_1921+205del MANE Select	ENSP00000356379.4:n.1921+201_1921+205del
ENST00000679766.1:n.2138+201_2138+205del
ENST00000680265.1:c.1921+201_1921+205del	ENSP00000505384.1:n.1921+201_1921+205del
ENST00000680710.1:c.1921+201_1921+205del	ENSP00000506676.1:n.1921+201_1921+205del
ENST00000681879.1:c.1921+201_1921+205del	ENSP00000505363.1:n.1921+201_1921+205del
ENST00000294732.11:c.1921+201_1921+205del	ENSP00000294732.7:n.1921+201_1921+205del
ENST00000367409.8:c.1921+201_1921+205del	ENSP00000356379.4:n.1921+201_1921+205del
ENST00000612785.1:c.561+1561_561+1565del	ENSP00000479244.1:n.561+1561_561+1565del
NM_001206846.1:c.1921+201_1921+205del	NP_001193775.1:n.1921+201_1921+205del
NM_018136.4:c.1921+201_1921+205del	NP_060606.3:n.1921+201_1921+205del
NM_018136.5:c.1921+201_1921+205del MANE Select	NP_060606.3:n.1921+201_1921+205del
NM_001206846.2:c.1921+201_1921+205del	NP_001193775.1:n.1921+201_1921+205del