Canonical Allele Identifier: CA1760907317

Gene: MCPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6445165_6445166delinsCT , CM000670.2:g.6445165_6445166delinsCT	GRCh38
NC_000008.10:g.6302686_6302687delinsCT , CM000670.1:g.6302686_6302687delinsCT	GRCh37
NC_000008.9:g.6290094_6290095delinsCT	NCBI36
NG_016619.1:g.43574_43575delinsCT
NG_016619.2:g.43574_43575delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519480.6:c.1443_1444delinsCT	ENSP00000430962.1:p.Ile481=
ENST00000685179.1:c.1437_1438delinsCT	ENSP00000510001.1:p.Ile479=
ENST00000686750.1:c.1353_1354delinsCT	ENSP00000509053.1:p.Ile451=
ENST00000687577.1:n.3004_3005delinsCT
ENST00000687720.1:c.*1391_*1392delinsCT	ENSP00000510728.1:n.*1391_*1392delinsCT
ENST00000687874.1:n.685+3009_685+3010delinsCT
ENST00000688099.1:c.*1722_*1723delinsCT	ENSP00000509622.1:n.*1722_*1723delinsCT
ENST00000688101.1:c.863_864delinsCT
ENST00000688388.1:c.1443_1444delinsCT	ENSP00000510092.1:p.Ile481=
ENST00000688452.1:c.*962_*963delinsCT	ENSP00000510556.1:n.*962_*963delinsCT
ENST00000688658.1:n.283_284delinsCT
ENST00000688912.1:n.1454_1455delinsCT
ENST00000689348.1:c.1443_1444delinsCT	ENSP00000509554.1:p.Ile481=
ENST00000689633.1:c.1443_1444delinsCT	ENSP00000509054.1:p.Ile481=
ENST00000689736.1:c.670+3009_670+3010delinsCT	ENSP00000509722.1:n.670+3009_670+3010delinsCT
ENST00000690159.1:c.*1722_*1723delinsCT	ENSP00000510482.1:n.*1722_*1723delinsCT
ENST00000690518.1:c.*1183_*1184delinsCT	ENSP00000509135.1:n.*1183_*1184delinsCT
ENST00000690682.1:c.*1338_*1339delinsCT	ENSP00000509896.1:n.*1338_*1339delinsCT
ENST00000690708.1:c.670+3009_670+3010delinsCT	ENSP00000510400.1:n.670+3009_670+3010delinsCT
ENST00000690826.1:c.1443_1444delinsCT	ENSP00000510536.1:p.Ile481=
ENST00000691435.1:c.1443_1444delinsCT	ENSP00000510652.1:p.Ile481=
ENST00000691655.1:c.*680+3009_*680+3010delinsCT	ENSP00000509652.1:n.*680+3009_*680+3010delinsCT
ENST00000691738.1:n.1651_1652delinsCT
ENST00000692534.1:c.203+660_203+661delinsCT
ENST00000692836.1:c.1443_1444delinsCT	ENSP00000509971.1:p.Ile481=
ENST00000692938.1:c.1443_1444delinsCT	ENSP00000509072.1:p.Ile481=
ENST00000693231.1:c.*1183_*1184delinsCT	ENSP00000510764.1:n.*1183_*1184delinsCT
ENST00000344683.10:c.1443_1444delinsCT MANE Select	ENSP00000342924.5:p.Ile481=
ENST00000344683.9:c.1443_1444delinsCT	ENSP00000342924.5:p.Ile481=
ENST00000519480.5:c.1443_1444delinsCT	ENSP00000430962.1:p.Ile481=
ENST00000522905.1:c.1299_1300delinsCT	ENSP00000430768.1:p.Ile433=
NM_001172574.1:c.1443_1444delinsCT	NP_001166045.1:p.Ile481=
NM_001172575.1:c.1299_1300delinsCT	NP_001166046.1:p.Ile433=
NM_024596.3:c.1443_1444delinsCT	NP_078872.2:p.Ile481=
XM_011534755.1:c.1443_1444delinsCT	XP_011533057.1:p.Ile481=
XM_011534756.1:c.1443_1444delinsCT	XP_011533058.1:p.Ile481=
XM_011534757.1:c.1443_1444delinsCT	XP_011533059.1:p.Ile481=
XM_011534758.1:c.1443_1444delinsCT	XP_011533060.1:p.Ile481=
XM_011534759.1:c.1443_1444delinsCT	XP_011533061.1:p.Ile481=
XM_011534760.1:c.918_919delinsCT	XP_011533062.1:p.Ile306=
NM_001322042.1:c.1443_1444delinsCT	NP_001308971.1:p.Ile481=
NM_001322043.1:c.1437_1438delinsCT	NP_001308972.1:p.Ile479=
NM_001322045.1:c.1341_1342delinsCT	NP_001308974.1:p.Ile447=
NM_001363979.1:c.1443_1444delinsCT	NP_001350908.1:p.Ile481=
NM_001363980.1:c.1443_1444delinsCT	NP_001350909.1:p.Ile481=
NM_024596.4:c.1443_1444delinsCT	NP_078872.2:p.Ile481=
NR_136159.1:n.1404_1405delinsCT
XM_011534755.3:c.1443_1444delinsCT	XP_011533057.1:p.Ile481=
XM_011534756.3:c.1443_1444delinsCT	XP_011533058.1:p.Ile481=
XM_011534757.3:c.1443_1444delinsCT	XP_011533059.1:p.Ile481=
XM_011534758.3:c.1443_1444delinsCT	XP_011533060.1:p.Ile481=
XM_011534759.3:c.1443_1444delinsCT	XP_011533061.1:p.Ile481=
XM_011534760.2:c.918_919delinsCT	XP_011533062.1:p.Ile306=
XM_017013829.2:c.1443_1444delinsCT	XP_016869318.1:p.Ile481=
XM_017013831.2:c.1443_1444delinsCT	XP_016869320.1:p.Ile481=
XM_017013832.2:c.1443_1444delinsCT	XP_016869321.1:p.Ile481=
XM_017013833.2:c.1443_1444delinsCT	XP_016869322.1:p.Ile481=
XR_001745596.2:n.1496_1497delinsCT
NM_024596.5:c.1443_1444delinsCT MANE Select	NP_078872.3:p.Ile481=
NM_001322042.2:c.1443_1444delinsCT	NP_001308971.2:p.Ile481=
NM_001363980.2:c.1443_1444delinsCT	NP_001350909.1:p.Ile481=
NM_001172574.2:c.1443_1444delinsCT	NP_001166045.2:p.Ile481=
NM_001172575.2:c.1299_1300delinsCT	NP_001166046.1:p.Ile433=
NM_001322043.2:c.1437_1438delinsCT	NP_001308972.2:p.Ile479=
NM_001322045.2:c.1341_1342delinsCT	NP_001308974.2:p.Ile447=
NR_136159.2:n.1369_1370delinsCT