Canonical Allele Identifier: CA580027947

Gene: MCPH1

Linked Data

• ClinVar Variation Id: 2229547
• ClinVar RCV Id: RCV002697528
• dbSNP Id: rs1178624570
• gnomAD v2: 8-6302587-TAAG-T
• gnomAD v3: 8-6445066-TAAG-T
• gnomAD v4: 8-6445066-TAAG-T
• MyVariant Identifiers: chr8:g.6302588_6302590del (hg19) ; chr8:g.6445067_6445069del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6445070_6445072del , CM000670.2:g.6445070_6445072del	GRCh38
NC_000008.10:g.6302591_6302593del , CM000670.1:g.6302591_6302593del	GRCh37
NC_000008.9:g.6289999_6290001del	NCBI36
NG_016619.1:g.43479_43481del
NG_016619.2:g.43479_43481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519480.6:c.1348_1350del	ENSP00000430962.1:p.Lys450del
ENST00000685179.1:c.1342_1344del	ENSP00000510001.1:p.Lys448del
ENST00000686750.1:c.1258_1260del	ENSP00000509053.1:p.Lys420del
ENST00000687577.1:n.2909_2911del
ENST00000687720.1:c.*1296_*1298del	ENSP00000510728.1:n.*1296_*1298del
ENST00000687874.1:n.685+2914_685+2916del
ENST00000688099.1:c.*1627_*1629del	ENSP00000509622.1:n.*1627_*1629del
ENST00000688101.1:c.768_770del
ENST00000688388.1:c.1348_1350del	ENSP00000510092.1:p.Lys450del
ENST00000688452.1:c.*867_*869del	ENSP00000510556.1:n.*867_*869del
ENST00000688658.1:n.188_190del
ENST00000688912.1:n.1359_1361del
ENST00000689348.1:c.1348_1350del	ENSP00000509554.1:p.Lys450del
ENST00000689633.1:c.1348_1350del	ENSP00000509054.1:p.Lys450del
ENST00000689736.1:c.670+2914_670+2916del	ENSP00000509722.1:n.670+2914_670+2916del
ENST00000690159.1:c.*1627_*1629del	ENSP00000510482.1:n.*1627_*1629del
ENST00000690518.1:c.*1088_*1090del	ENSP00000509135.1:n.*1088_*1090del
ENST00000690682.1:c.*1243_*1245del	ENSP00000509896.1:n.*1243_*1245del
ENST00000690708.1:c.670+2914_670+2916del	ENSP00000510400.1:n.670+2914_670+2916del
ENST00000690826.1:c.1348_1350del	ENSP00000510536.1:p.Lys450del
ENST00000691435.1:c.1348_1350del	ENSP00000510652.1:p.Lys450del
ENST00000691655.1:c.*680+2914_*680+2916del	ENSP00000509652.1:n.*680+2914_*680+2916del
ENST00000691738.1:n.1556_1558del
ENST00000692534.1:c.203+565_203+567del
ENST00000692836.1:c.1348_1350del	ENSP00000509971.1:p.Lys450del
ENST00000692938.1:c.1348_1350del	ENSP00000509072.1:p.Lys450del
ENST00000693231.1:c.*1088_*1090del	ENSP00000510764.1:n.*1088_*1090del
ENST00000344683.10:c.1348_1350del MANE Select	ENSP00000342924.5:p.Lys450del
ENST00000344683.9:c.1348_1350del	ENSP00000342924.5:p.Lys450del
ENST00000519480.5:c.1348_1350del	ENSP00000430962.1:p.Lys450del
ENST00000522905.1:c.1204_1206del	ENSP00000430768.1:p.Lys402del
NM_001172574.1:c.1348_1350del	NP_001166045.1:p.Lys450del
NM_001172575.1:c.1204_1206del	NP_001166046.1:p.Lys402del
NM_024596.3:c.1348_1350del	NP_078872.2:p.Lys450del
XM_011534755.1:c.1348_1350del	XP_011533057.1:p.Lys450del
XM_011534756.1:c.1348_1350del	XP_011533058.1:p.Lys450del
XM_011534757.1:c.1348_1350del	XP_011533059.1:p.Lys450del
XM_011534758.1:c.1348_1350del	XP_011533060.1:p.Lys450del
XM_011534759.1:c.1348_1350del	XP_011533061.1:p.Lys450del
XM_011534760.1:c.823_825del	XP_011533062.1:p.Lys275del
NM_001322042.1:c.1348_1350del	NP_001308971.1:p.Lys450del
NM_001322043.1:c.1342_1344del	NP_001308972.1:p.Lys448del
NM_001322045.1:c.1246_1248del	NP_001308974.1:p.Lys416del
NM_001363979.1:c.1348_1350del	NP_001350908.1:p.Lys450del
NM_001363980.1:c.1348_1350del	NP_001350909.1:p.Lys450del
NM_024596.4:c.1348_1350del	NP_078872.2:p.Lys450del
NR_136159.1:n.1309_1311del
XM_011534755.3:c.1348_1350del	XP_011533057.1:p.Lys450del
XM_011534756.3:c.1348_1350del	XP_011533058.1:p.Lys450del
XM_011534757.3:c.1348_1350del	XP_011533059.1:p.Lys450del
XM_011534758.3:c.1348_1350del	XP_011533060.1:p.Lys450del
XM_011534759.3:c.1348_1350del	XP_011533061.1:p.Lys450del
XM_011534760.2:c.823_825del	XP_011533062.1:p.Lys275del
XM_017013829.2:c.1348_1350del	XP_016869318.1:p.Lys450del
XM_017013831.2:c.1348_1350del	XP_016869320.1:p.Lys450del
XM_017013832.2:c.1348_1350del	XP_016869321.1:p.Lys450del
XM_017013833.2:c.1348_1350del	XP_016869322.1:p.Lys450del
XR_001745596.2:n.1401_1403del
NM_024596.5:c.1348_1350del MANE Select	NP_078872.3:p.Lys450del
NM_001322042.2:c.1348_1350del	NP_001308971.2:p.Lys450del
NM_001363980.2:c.1348_1350del	NP_001350909.1:p.Lys450del
NM_001172574.2:c.1348_1350del	NP_001166045.2:p.Lys450del
NM_001172575.2:c.1204_1206del	NP_001166046.1:p.Lys402del
NM_001322043.2:c.1342_1344del	NP_001308972.2:p.Lys448del
NM_001322045.2:c.1246_1248del	NP_001308974.2:p.Lys416del
NR_136159.2:n.1274_1276del