Canonical Allele Identifier: CA2649664393

Gene: ASPM

Linked Data

• gnomAD v4: 1-197144055-C-CCAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197144055_197144056insCAAA , CM000663.2:g.197144055_197144056insCAAA	GRCh38
NC_000001.10:g.197113185_197113186insCAAA , CM000663.1:g.197113185_197113186insCAAA	GRCh37
NC_000001.9:g.195379808_195379809insCAAA	NCBI36
NG_015867.1:g.7639_7640insTTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.342_343insTTTG MANE Select	ENSP00000356379.4:p.Glu115PhefsTer15
ENST00000679766.1:n.559_560insTTTG
ENST00000680265.1:c.342_343insTTTG	ENSP00000505384.1:p.Glu115PhefsTer15
ENST00000680710.1:c.342_343insTTTG	ENSP00000506676.1:p.Glu115PhefsTer15
ENST00000681879.1:c.342_343insTTTG	ENSP00000505363.1:p.Glu115PhefsTer15
ENST00000294732.11:c.342_343insTTTG	ENSP00000294732.7:p.Glu115PhefsTer15
ENST00000367409.8:c.342_343insTTTG	ENSP00000356379.4:p.Glu115PhefsTer15
ENST00000612785.1:c.342_343insTTTG	ENSP00000479244.1:p.Glu115PhefsTer15
NM_001206846.1:c.342_343insTTTG	NP_001193775.1:p.Glu115PhefsTer15
NM_018136.4:c.342_343insTTTG	NP_060606.3:p.Glu115PhefsTer15
NM_018136.5:c.342_343insTTTG MANE Select	NP_060606.3:p.Glu115PhefsTer15
NM_001206846.2:c.342_343insTTTG	NP_001193775.1:p.Glu115PhefsTer15