Canonical Allele Identifier: CA2579087189

Gene: MCPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6480693del , CM000670.2:g.6480693del	GRCh38
NC_000008.10:g.6338214del , CM000670.1:g.6338214del	GRCh37
NC_000008.9:g.6325622del	NCBI36
NG_016619.1:g.79102del
NG_016619.2:g.79102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519221.6:n.200-21del
ENST00000521129.2:c.21-21del	ENSP00000509664.1:n.21-21del
ENST00000521175.2:n.697-21del
ENST00000522020.2:n.52-13431del
ENST00000687324.1:n.912-21del
ENST00000687413.1:c.63-21del	ENSP00000510583.1:n.63-21del
ENST00000687720.1:c.*1922-21del	ENSP00000510728.1:n.*1922-21del
ENST00000688101.1:c.2131-21del
ENST00000688388.1:c.1974-28del	ENSP00000510092.1:n.1974-28del
ENST00000688912.1:n.1985-21del
ENST00000689148.1:n.934-21del
ENST00000689348.1:c.1974-21del	ENSP00000509554.1:n.1974-21del
ENST00000689633.1:c.1935+25441del	ENSP00000509054.1:n.1935+25441del
ENST00000689736.1:c.781-19159del	ENSP00000509722.1:n.781-19159del
ENST00000690159.1:c.*2253-21del	ENSP00000510482.1:n.*2253-21del
ENST00000690708.1:c.819-21del	ENSP00000510400.1:n.819-21del
ENST00000690826.1:c.1974-21del	ENSP00000510536.1:n.1974-21del
ENST00000691435.1:c.1974-21del	ENSP00000510652.1:n.1974-21del
ENST00000691655.1:c.*911-21del	ENSP00000509652.1:n.*911-21del
ENST00000692836.1:c.1974-21del	ENSP00000509971.1:n.1974-21del
ENST00000692938.1:c.1974-21del	ENSP00000509072.1:n.1974-21del
ENST00000693231.1:c.*1675+25441del	ENSP00000510764.1:n.*1675+25441del
ENST00000693528.1:n.207-21del
ENST00000344683.10:c.1974-21del MANE Select	ENSP00000342924.5:n.1974-21del
ENST00000344683.9:c.1974-21del	ENSP00000342924.5:n.1974-21del
ENST00000519221.5:n.81-21del
ENST00000521129.1:n.132-21del
ENST00000522020.1:n.52-13431del
NM_024596.3:c.1974-21del	NP_078872.2:n.1974-21del
XM_011534755.1:c.1974-21del	XP_011533057.1:n.1974-21del
XM_011534756.1:c.1974-21del	XP_011533058.1:n.1974-21del
XM_011534757.1:c.1974-21del	XP_011533059.1:n.1974-21del
XM_011534758.1:c.1974-21del	XP_011533060.1:n.1974-21del
XM_011534759.1:c.1974-21del	XP_011533061.1:n.1974-21del
XM_011534760.1:c.1449-21del	XP_011533062.1:n.1449-21del
NM_001322042.1:c.1974-21del	NP_001308971.1:n.1974-21del
NM_001363979.1:c.1974-21del	NP_001350908.1:n.1974-21del
NM_001363980.1:c.1935+25441del	NP_001350909.1:n.1935+25441del
NM_024596.4:c.1974-21del	NP_078872.2:n.1974-21del
XM_011534755.3:c.1974-21del	XP_011533057.1:n.1974-21del
XM_011534756.3:c.1974-21del	XP_011533058.1:n.1974-21del
XM_011534757.3:c.1974-21del	XP_011533059.1:n.1974-21del
XM_011534758.3:c.1974-21del	XP_011533060.1:n.1974-21del
XM_011534759.3:c.1974-21del	XP_011533061.1:n.1974-21del
XM_011534760.2:c.1449-21del	XP_011533062.1:n.1449-21del
XM_017013829.2:c.1974-21del	XP_016869318.1:n.1974-21del
XM_017013831.2:c.1936-19159del	XP_016869320.1:n.1936-19159del
XM_017013832.2:c.1935+25441del	XP_016869321.1:n.1935+25441del
XM_017013833.2:c.1974-21del	XP_016869322.1:n.1974-21del
XR_001745596.2:n.2027-21del
NM_024596.5:c.1974-21del MANE Select	NP_078872.3:n.1974-21del
NM_001322042.2:c.1974-21del	NP_001308971.2:n.1974-21del
NM_001363980.2:c.1935+25441del	NP_001350909.1:n.1935+25441del