Canonical Allele Identifier: CA2739278721

Gene: MCPH1

Linked Data

• ClinVar Variation Id: 2799283
• ClinVar RCV Id: RCV003668433

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6444897_6444898delinsGG , CM000670.2:g.6444897_6444898delinsGG	GRCh38
NC_000008.10:g.6302418_6302419delinsGG , CM000670.1:g.6302418_6302419delinsGG	GRCh37
NC_000008.9:g.6289826_6289827delinsGG	NCBI36
NG_016619.1:g.43306_43307delinsGG
NG_016619.2:g.43306_43307delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519480.6:c.1175_1176delinsGG	ENSP00000430962.1:p.Asp392Gly
ENST00000685179.1:c.1169_1170delinsGG	ENSP00000510001.1:p.Asp390Gly
ENST00000686750.1:c.1085_1086delinsGG	ENSP00000509053.1:p.Asp362Gly
ENST00000687577.1:n.2736_2737delinsGG
ENST00000687720.1:c.*1123_*1124delinsGG	ENSP00000510728.1:n.*1123_*1124delinsGG
ENST00000687874.1:n.685+2741_685+2742delinsGG
ENST00000688099.1:c.*1454_*1455delinsGG	ENSP00000509622.1:n.*1454_*1455delinsGG
ENST00000688101.1:c.595_596delinsGG
ENST00000688388.1:c.1175_1176delinsGG	ENSP00000510092.1:p.Asp392Gly
ENST00000688452.1:c.*694_*695delinsGG	ENSP00000510556.1:n.*694_*695delinsGG
ENST00000688658.1:n.15_16delinsGG
ENST00000688912.1:n.1186_1187delinsGG
ENST00000689348.1:c.1175_1176delinsGG	ENSP00000509554.1:p.Asp392Gly
ENST00000689633.1:c.1175_1176delinsGG	ENSP00000509054.1:p.Asp392Gly
ENST00000689736.1:c.670+2741_670+2742delinsGG	ENSP00000509722.1:n.670+2741_670+2742delinsGG
ENST00000690159.1:c.*1454_*1455delinsGG	ENSP00000510482.1:n.*1454_*1455delinsGG
ENST00000690518.1:c.*915_*916delinsGG	ENSP00000509135.1:n.*915_*916delinsGG
ENST00000690682.1:c.*1070_*1071delinsGG	ENSP00000509896.1:n.*1070_*1071delinsGG
ENST00000690708.1:c.670+2741_670+2742delinsGG	ENSP00000510400.1:n.670+2741_670+2742delinsGG
ENST00000690826.1:c.1175_1176delinsGG	ENSP00000510536.1:p.Asp392Gly
ENST00000691435.1:c.1175_1176delinsGG	ENSP00000510652.1:p.Asp392Gly
ENST00000691655.1:c.*680+2741_*680+2742delinsGG	ENSP00000509652.1:n.*680+2741_*680+2742delinsGG
ENST00000691738.1:n.1383_1384delinsGG
ENST00000692534.1:c.203+392_203+393delinsGG
ENST00000692836.1:c.1175_1176delinsGG	ENSP00000509971.1:p.Asp392Gly
ENST00000692938.1:c.1175_1176delinsGG	ENSP00000509072.1:p.Asp392Gly
ENST00000693231.1:c.*915_*916delinsGG	ENSP00000510764.1:n.*915_*916delinsGG
ENST00000344683.10:c.1175_1176delinsGG MANE Select	ENSP00000342924.5:p.Asp392Gly
ENST00000344683.9:c.1175_1176delinsGG	ENSP00000342924.5:p.Asp392Gly
ENST00000519480.5:c.1175_1176delinsGG	ENSP00000430962.1:p.Asp392Gly
ENST00000522905.1:c.1031_1032delinsGG	ENSP00000430768.1:p.Asp344Gly
NM_001172574.1:c.1175_1176delinsGG	NP_001166045.1:p.Asp392Gly
NM_001172575.1:c.1031_1032delinsGG	NP_001166046.1:p.Asp344Gly
NM_024596.3:c.1175_1176delinsGG	NP_078872.2:p.Asp392Gly
XM_011534755.1:c.1175_1176delinsGG	XP_011533057.1:p.Asp392Gly
XM_011534756.1:c.1175_1176delinsGG	XP_011533058.1:p.Asp392Gly
XM_011534757.1:c.1175_1176delinsGG	XP_011533059.1:p.Asp392Gly
XM_011534758.1:c.1175_1176delinsGG	XP_011533060.1:p.Asp392Gly
XM_011534759.1:c.1175_1176delinsGG	XP_011533061.1:p.Asp392Gly
XM_011534760.1:c.650_651delinsGG	XP_011533062.1:p.Asp217Gly
NM_001322042.1:c.1175_1176delinsGG	NP_001308971.1:p.Asp392Gly
NM_001322043.1:c.1169_1170delinsGG	NP_001308972.1:p.Asp390Gly
NM_001322045.1:c.1073_1074delinsGG	NP_001308974.1:p.Asp358Gly
NM_001363979.1:c.1175_1176delinsGG	NP_001350908.1:p.Asp392Gly
NM_001363980.1:c.1175_1176delinsGG	NP_001350909.1:p.Asp392Gly
NM_024596.4:c.1175_1176delinsGG	NP_078872.2:p.Asp392Gly
NR_136159.1:n.1136_1137delinsGG
XM_011534755.3:c.1175_1176delinsGG	XP_011533057.1:p.Asp392Gly
XM_011534756.3:c.1175_1176delinsGG	XP_011533058.1:p.Asp392Gly
XM_011534757.3:c.1175_1176delinsGG	XP_011533059.1:p.Asp392Gly
XM_011534758.3:c.1175_1176delinsGG	XP_011533060.1:p.Asp392Gly
XM_011534759.3:c.1175_1176delinsGG	XP_011533061.1:p.Asp392Gly
XM_011534760.2:c.650_651delinsGG	XP_011533062.1:p.Asp217Gly
XM_017013829.2:c.1175_1176delinsGG	XP_016869318.1:p.Asp392Gly
XM_017013831.2:c.1175_1176delinsGG	XP_016869320.1:p.Asp392Gly
XM_017013832.2:c.1175_1176delinsGG	XP_016869321.1:p.Asp392Gly
XM_017013833.2:c.1175_1176delinsGG	XP_016869322.1:p.Asp392Gly
XR_001745596.2:n.1228_1229delinsGG
NM_024596.5:c.1175_1176delinsGG MANE Select	NP_078872.3:p.Asp392Gly
NM_001322042.2:c.1175_1176delinsGG	NP_001308971.2:p.Asp392Gly
NM_001363980.2:c.1175_1176delinsGG	NP_001350909.1:p.Asp392Gly
NM_001172574.2:c.1175_1176delinsGG	NP_001166045.2:p.Asp392Gly
NM_001172575.2:c.1031_1032delinsGG	NP_001166046.1:p.Asp344Gly
NM_001322043.2:c.1169_1170delinsGG	NP_001308972.2:p.Asp390Gly
NM_001322045.2:c.1073_1074delinsGG	NP_001308974.2:p.Asp358Gly
NR_136159.2:n.1101_1102delinsGG