Canonical Allele Identifier: CA559295394

Gene: CPLANE1

Linked Data

• dbSNP Id: rs1204230047
• gnomAD v2: 5-37125356-CTGGGACAGAAAGGATCA-C
• MyVariant Identifiers: chr5:g.37125357_37125373del (hg19) ; chr5:g.37125255_37125271del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125257_37125273del , CM000667.2:g.37125257_37125273del	GRCh38
NC_000005.9:g.37125359_37125375del , CM000667.1:g.37125359_37125375del	GRCh37
NC_000005.8:g.37161116_37161132del	NCBI36
NG_032772.1:g.129158_129174del
NG_032772.2:g.129158_129174del

Transcript Alleles

HGVS	Amino-acid change
ENST00000510830.2:n.1930_1946del
ENST00000651892.2:c.8931_8947del MANE Select	ENSP00000498265.2:p.His2977GlnfsTer21
ENST00000676160.1:n.792_808del
ENST00000425232.6:c.8769_8785del	ENSP00000389014.2:p.His2923GlnfsTer21
ENST00000508244.5:c.8769_8785del	ENSP00000421690.1:p.His2923GlnfsTer21
ENST00000509849.5:c.5943_5959del	ENSP00000426337.1:n.5943_5959del
ENST00000509957.5:n.4112_4128del
ENST00000512288.5:n.342-3487_342-3471del
ENST00000514429.5:c.5967_5983del	ENSP00000424223.1:p.His1989GlnfsTer21
NM_023073.3:c.8769_8785del	NP_075561.3:p.His2923GlnfsTer21
XM_005248345.2:c.8931_8947del	XP_005248402.1:p.His2977GlnfsTer21
XM_005248346.2:c.8928_8944del	XP_005248403.1:p.His2976GlnfsTer21
XM_005248347.2:c.8928_8944del	XP_005248404.1:p.His2976GlnfsTer21
XM_005248349.2:c.8820_8836del	XP_005248406.1:p.His2940GlnfsTer21
XM_005248350.2:c.8802_8818del	XP_005248407.1:p.His2934GlnfsTer21
XM_005248353.3:c.5574_5590del	XP_005248410.1:p.His1858GlnfsTer21
XM_006714489.2:c.8931_8947del	XP_006714552.1:p.His2977GlnfsTer21
XM_006714491.2:c.3504_3520del	XP_006714554.1:p.His1168GlnfsTer21
XM_011514085.1:c.8931_8947del	XP_011512387.1:p.His2977GlnfsTer21
XM_011514086.1:c.8931_8947del	XP_011512388.1:p.His2977GlnfsTer21
XM_011514087.1:c.8877_8893del	XP_011512389.1:p.His2959GlnfsTer21
XM_011514088.1:c.8823_8839del	XP_011512390.1:p.His2941GlnfsTer21
XM_011514089.1:c.8931_8947del	XP_011512391.1:p.His2977GlnfsTer21
XM_011514090.1:c.8613_8629del	XP_011512392.1:p.His2871GlnfsTer21
XM_011514091.1:c.8259_8275del	XP_011512393.1:p.His2753GlnfsTer21
XM_011514092.1:c.8931_8947del	XP_011512394.1:p.His2977GlnfsTer21
XM_011514094.1:c.6156_6172del	XP_011512396.1:p.His2052GlnfsTer21
XR_427661.2:n.9106_9122del
XR_925644.1:n.9106_9122del
XM_005248345.4:c.8931_8947del	XP_005248402.1:p.His2977GlnfsTer21
XM_005248346.4:c.8928_8944del	XP_005248403.1:p.His2976GlnfsTer21
XM_005248347.4:c.8928_8944del	XP_005248404.1:p.His2976GlnfsTer21
XM_005248349.4:c.8820_8836del	XP_005248406.1:p.His2940GlnfsTer21
XM_005248350.4:c.8802_8818del	XP_005248407.1:p.His2934GlnfsTer21
XM_006714491.3:c.3504_3520del	XP_006714554.1:p.His1168GlnfsTer21
XM_011514085.3:c.8931_8947del	XP_011512387.1:p.His2977GlnfsTer21
XM_011514086.3:c.8931_8947del	XP_011512388.1:p.His2977GlnfsTer21
XM_011514087.2:c.8877_8893del	XP_011512389.1:p.His2959GlnfsTer21
XM_011514088.2:c.8823_8839del	XP_011512390.1:p.His2941GlnfsTer21
XM_011514089.2:c.8931_8947del	XP_011512391.1:p.His2977GlnfsTer21
XM_011514090.3:c.8613_8629del	XP_011512392.1:p.His2871GlnfsTer21
XM_011514092.2:c.8931_8947del	XP_011512394.1:p.His2977GlnfsTer21
XM_011514094.2:c.6156_6172del	XP_011512396.1:p.His2052GlnfsTer21
XM_017009760.1:c.8742_8758del	XP_016865249.1:p.His2914GlnfsTer21
XM_017009761.2:c.8742_8758del	XP_016865250.1:p.His2914GlnfsTer21
XM_017009763.1:c.7938_7954del	XP_016865252.1:p.His2646GlnfsTer21
XM_017009765.1:c.7743_7759del	XP_016865254.1:p.His2581GlnfsTer21
XM_017009766.1:c.5574_5590del	XP_016865255.1:p.His1858GlnfsTer21
XM_024446183.1:c.8742_8758del	XP_024301951.1:p.His2914GlnfsTer21
XM_024446184.1:c.8613_8629del	XP_024301952.1:p.His2871GlnfsTer21
XM_024446185.1:c.8259_8275del	XP_024301953.1:p.His2753GlnfsTer21
XM_024446186.1:c.7938_7954del	XP_024301954.1:p.His2646GlnfsTer21
XR_925644.2:n.9155_9171del
NM_001384732.1:c.8931_8947del MANE Select	NP_001371661.1:p.His2977GlnfsTer21
NM_023073.4:c.8769_8785del	NP_075561.3:p.His2923GlnfsTer21