Canonical Allele Identifier: CA1761003360

Gene: MCPH1

Linked Data

• dbSNP Id: rs1828978368

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6596982_6596983del , CM000670.2:g.6596982_6596983del	GRCh38
NC_000008.10:g.6454503_6454504del , CM000670.1:g.6454503_6454504del	GRCh37
NC_000008.9:g.6441911_6441912del	NCBI36
NG_016619.1:g.195391_195392del
NG_016619.2:g.195391_195392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519221.6:n.441-24472_441-24471del
ENST00000521129.2:c.262-24472_262-24471del	ENSP00000509664.1:n.262-24472_262-24471del
ENST00000521175.2:n.938-24472_938-24471del
ENST00000687324.1:n.1153-24472_1153-24471del
ENST00000687413.1:c.304-24472_304-24471del	ENSP00000510583.1:n.304-24472_304-24471del
ENST00000687720.1:c.*2163-24472_*2163-24471del	ENSP00000510728.1:n.*2163-24472_*2163-24471del
ENST00000688101.1:c.2372-24472_2372-24471del
ENST00000688388.1:c.*204-24472_*204-24471del	ENSP00000510092.1:n.*204-24472_*204-24471del
ENST00000689148.1:n.1175-24472_1175-24471del
ENST00000689348.1:c.2215-24472_2215-24471del	ENSP00000509554.1:n.2215-24472_2215-24471del
ENST00000689633.1:c.1936-24472_1936-24471del	ENSP00000509054.1:n.1936-24472_1936-24471del
ENST00000689736.1:c.859-24472_859-24471del	ENSP00000509722.1:n.859-24472_859-24471del
ENST00000690159.1:c.*2494-24472_*2494-24471del	ENSP00000510482.1:n.*2494-24472_*2494-24471del
ENST00000690708.1:c.1060-24472_1060-24471del	ENSP00000510400.1:n.1060-24472_1060-24471del
ENST00000690826.1:c.2215-24472_2215-24471del	ENSP00000510536.1:n.2215-24472_2215-24471del
ENST00000692836.1:c.2215-24472_2215-24471del	ENSP00000509971.1:n.2215-24472_2215-24471del
ENST00000692938.1:c.2215-24472_2215-24471del	ENSP00000509072.1:n.2215-24472_2215-24471del
ENST00000693231.1:c.*1676-45698_*1676-45697del	ENSP00000510764.1:n.*1676-45698_*1676-45697del
ENST00000344683.10:c.2215-24472_2215-24471del MANE Select	ENSP00000342924.5:n.2215-24472_2215-24471del
ENST00000344683.9:c.2215-24472_2215-24471del	ENSP00000342924.5:n.2215-24472_2215-24471del
ENST00000519221.5:n.322-24472_322-24471del
ENST00000521129.1:n.373-24472_373-24471del
NM_024596.3:c.2215-24472_2215-24471del	NP_078872.2:n.2215-24472_2215-24471del
XM_011534755.1:c.2215-24472_2215-24471del	XP_011533057.1:n.2215-24472_2215-24471del
XM_011534760.1:c.1690-24472_1690-24471del	XP_011533062.1:n.1690-24472_1690-24471del
NM_001322042.1:c.2215-24472_2215-24471del	NP_001308971.1:n.2215-24472_2215-24471del
NM_001363979.1:c.2215-24472_2215-24471del	NP_001350908.1:n.2215-24472_2215-24471del
NM_001363980.1:c.1936-24472_1936-24471del	NP_001350909.1:n.1936-24472_1936-24471del
NM_024596.4:c.2215-24472_2215-24471del	NP_078872.2:n.2215-24472_2215-24471del
XM_011534755.3:c.2215-24472_2215-24471del	XP_011533057.1:n.2215-24472_2215-24471del
XM_011534760.2:c.1690-24472_1690-24471del	XP_011533062.1:n.1690-24472_1690-24471del
XM_017013829.2:c.2215-24472_2215-24471del	XP_016869318.1:n.2215-24472_2215-24471del
XM_017013831.2:c.2014-24472_2014-24471del	XP_016869320.1:n.2014-24472_2014-24471del
XM_017013832.2:c.1936-24472_1936-24471del	XP_016869321.1:n.1936-24472_1936-24471del
XM_017013833.2:c.2215-46012_2215-46011del	XP_016869322.1:n.2215-46012_2215-46011del
XR_001745596.2:n.2268-24472_2268-24471del
NM_024596.5:c.2215-24472_2215-24471del MANE Select	NP_078872.3:n.2215-24472_2215-24471del
NM_001322042.2:c.2215-24472_2215-24471del	NP_001308971.2:n.2215-24472_2215-24471del
NM_001363980.2:c.1936-24472_1936-24471del	NP_001350909.1:n.1936-24472_1936-24471del