Canonical Allele Identifier: CA1539697892

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37227303_37227304delinsGA , CM000667.2:g.37227303_37227304delinsGA	GRCh38
NC_000005.9:g.37227405_37227406delinsGA , CM000667.1:g.37227405_37227406delinsGA	GRCh37
NC_000005.8:g.37263162_37263163delinsGA	NCBI36
NG_032772.1:g.27125_27126delinsTC
NG_032772.2:g.27125_27126delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425232.7:c.1193_1194delinsTC
ENST00000651892.2:c.1460_1461delinsTC MANE Select	ENSP00000498265.2:p.Phe487=
ENST00000675547.1:n.1530_1531delinsTC
ENST00000676290.1:n.1535_1536delinsTC
ENST00000425232.6:c.1460_1461delinsTC	ENSP00000389014.2:p.Phe487=
ENST00000508244.5:c.1460_1461delinsTC	ENSP00000421690.1:p.Phe487=
NM_023073.3:c.1460_1461delinsTC	NP_075561.3:p.Phe487=
XM_005248345.2:c.1460_1461delinsTC	XP_005248402.1:p.Phe487=
XM_005248346.2:c.1460_1461delinsTC	XP_005248403.1:p.Phe487=
XM_005248347.2:c.1460_1461delinsTC	XP_005248404.1:p.Phe487=
XM_005248349.2:c.1460_1461delinsTC	XP_005248406.1:p.Phe487=
XM_005248350.2:c.1460_1461delinsTC	XP_005248407.1:p.Phe487=
XM_006714489.2:c.1460_1461delinsTC	XP_006714552.1:p.Phe487=
XM_011514085.1:c.1460_1461delinsTC	XP_011512387.1:p.Phe487=
XM_011514086.1:c.1460_1461delinsTC	XP_011512388.1:p.Phe487=
XM_011514087.1:c.1460_1461delinsTC	XP_011512389.1:p.Phe487=
XM_011514088.1:c.1460_1461delinsTC	XP_011512390.1:p.Phe487=
XM_011514089.1:c.1460_1461delinsTC	XP_011512391.1:p.Phe487=
XM_011514090.1:c.1142_1143delinsTC	XP_011512392.1:p.Phe381=
XM_011514091.1:c.788_789delinsTC	XP_011512393.1:p.Phe263=
XM_011514092.1:c.1460_1461delinsTC	XP_011512394.1:p.Phe487=
XM_011514093.1:c.1460_1461delinsTC	XP_011512395.1:p.Phe487=
XR_427661.2:n.1635_1636delinsTC
XR_925644.1:n.1635_1636delinsTC
XM_005248345.4:c.1460_1461delinsTC	XP_005248402.1:p.Phe487=
XM_005248346.4:c.1460_1461delinsTC	XP_005248403.1:p.Phe487=
XM_005248347.4:c.1460_1461delinsTC	XP_005248404.1:p.Phe487=
XM_005248349.4:c.1460_1461delinsTC	XP_005248406.1:p.Phe487=
XM_005248350.4:c.1460_1461delinsTC	XP_005248407.1:p.Phe487=
XM_011514085.3:c.1460_1461delinsTC	XP_011512387.1:p.Phe487=
XM_011514086.3:c.1460_1461delinsTC	XP_011512388.1:p.Phe487=
XM_011514087.2:c.1460_1461delinsTC	XP_011512389.1:p.Phe487=
XM_011514088.2:c.1460_1461delinsTC	XP_011512390.1:p.Phe487=
XM_011514089.2:c.1460_1461delinsTC	XP_011512391.1:p.Phe487=
XM_011514090.3:c.1142_1143delinsTC	XP_011512392.1:p.Phe381=
XM_011514092.2:c.1460_1461delinsTC	XP_011512394.1:p.Phe487=
XM_017009760.1:c.1271_1272delinsTC	XP_016865249.1:p.Phe424=
XM_017009761.2:c.1271_1272delinsTC	XP_016865250.1:p.Phe424=
XM_017009763.1:c.467_468delinsTC	XP_016865252.1:p.Phe156=
XM_017009765.1:c.272_273delinsTC	XP_016865254.1:p.Phe91=
XM_024446183.1:c.1271_1272delinsTC	XP_024301951.1:p.Phe424=
XM_024446184.1:c.1142_1143delinsTC	XP_024301952.1:p.Phe381=
XM_024446185.1:c.788_789delinsTC	XP_024301953.1:p.Phe263=
XM_024446186.1:c.467_468delinsTC	XP_024301954.1:p.Phe156=
XR_001742208.1:n.1684_1685delinsTC
XR_002956171.1:n.1684_1685delinsTC
XR_925644.2:n.1684_1685delinsTC
NM_001384732.1:c.1460_1461delinsTC MANE Select	NP_001371661.1:p.Phe487=
NM_023073.4:c.1460_1461delinsTC	NP_075561.3:p.Phe487=