Canonical Allele Identifier: CA2765914098

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153972_37153973insAGT , CM000667.2:g.37153972_37153973insAGT	GRCh38
NC_000005.9:g.37154074_37154075insAGT , CM000667.1:g.37154074_37154075insAGT	GRCh37
NC_000005.8:g.37189831_37189832insAGT	NCBI36
NG_032772.1:g.100456_100457insACT
NG_032772.2:g.100456_100457insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1139_1140insACT
ENST00000651892.2:c.8140_8141insACT MANE Select	ENSP00000498265.2:p.Arg2714HisfsTer2
ENST00000425232.6:c.7978_7979insACT	ENSP00000389014.2:p.Arg2660HisfsTer2
ENST00000508244.5:c.7978_7979insACT	ENSP00000421690.1:p.Arg2660HisfsTer2
ENST00000509849.5:c.5152_5153insACT	ENSP00000426337.1:p.Arg1718HisfsTer2
ENST00000509957.5:n.382_383insACT
ENST00000511210.5:n.431_432insACT
ENST00000511824.2:c.1254_1255insACT
ENST00000514429.5:c.5176_5177insACT	ENSP00000424223.1:p.Arg1726HisfsTer2
ENST00000515380.1:n.392_393insACT
NM_023073.3:c.7978_7979insACT	NP_075561.3:p.Arg2660HisfsTer2
XM_005248345.2:c.8140_8141insACT	XP_005248402.1:p.Arg2714HisfsTer2
XM_005248346.2:c.8137_8138insACT	XP_005248403.1:p.Arg2713HisfsTer2
XM_005248347.2:c.8137_8138insACT	XP_005248404.1:p.Arg2713HisfsTer2
XM_005248349.2:c.8029_8030insACT	XP_005248406.1:p.Arg2677HisfsTer2
XM_005248350.2:c.8011_8012insACT	XP_005248407.1:p.Arg2671HisfsTer2
XM_005248353.3:c.4783_4784insACT	XP_005248410.1:p.Arg1595HisfsTer2
XM_006714489.2:c.8140_8141insACT	XP_006714552.1:p.Arg2714HisfsTer2
XM_006714491.2:c.2713_2714insACT	XP_006714554.1:p.Arg905HisfsTer2
XM_011514085.1:c.8140_8141insACT	XP_011512387.1:p.Arg2714HisfsTer2
XM_011514086.1:c.8140_8141insACT	XP_011512388.1:p.Arg2714HisfsTer2
XM_011514087.1:c.8086_8087insACT	XP_011512389.1:p.Arg2696HisfsTer2
XM_011514088.1:c.8032_8033insACT	XP_011512390.1:p.Arg2678HisfsTer2
XM_011514089.1:c.8140_8141insACT	XP_011512391.1:p.Arg2714HisfsTer2
XM_011514090.1:c.7822_7823insACT	XP_011512392.1:p.Arg2608HisfsTer2
XM_011514091.1:c.7468_7469insACT	XP_011512393.1:p.Arg2490HisfsTer2
XM_011514092.1:c.8140_8141insACT	XP_011512394.1:p.Arg2714HisfsTer2
XM_011514094.1:c.5365_5366insACT	XP_011512396.1:p.Arg1789HisfsTer2
XR_427661.2:n.8315_8316insACT
XR_925644.1:n.8315_8316insACT
XM_005248345.4:c.8140_8141insACT	XP_005248402.1:p.Arg2714HisfsTer2
XM_005248346.4:c.8137_8138insACT	XP_005248403.1:p.Arg2713HisfsTer2
XM_005248347.4:c.8137_8138insACT	XP_005248404.1:p.Arg2713HisfsTer2
XM_005248349.4:c.8029_8030insACT	XP_005248406.1:p.Arg2677HisfsTer2
XM_005248350.4:c.8011_8012insACT	XP_005248407.1:p.Arg2671HisfsTer2
XM_006714491.3:c.2713_2714insACT	XP_006714554.1:p.Arg905HisfsTer2
XM_011514085.3:c.8140_8141insACT	XP_011512387.1:p.Arg2714HisfsTer2
XM_011514086.3:c.8140_8141insACT	XP_011512388.1:p.Arg2714HisfsTer2
XM_011514087.2:c.8086_8087insACT	XP_011512389.1:p.Arg2696HisfsTer2
XM_011514088.2:c.8032_8033insACT	XP_011512390.1:p.Arg2678HisfsTer2
XM_011514089.2:c.8140_8141insACT	XP_011512391.1:p.Arg2714HisfsTer2
XM_011514090.3:c.7822_7823insACT	XP_011512392.1:p.Arg2608HisfsTer2
XM_011514092.2:c.8140_8141insACT	XP_011512394.1:p.Arg2714HisfsTer2
XM_011514094.2:c.5365_5366insACT	XP_011512396.1:p.Arg1789HisfsTer2
XM_017009760.1:c.7951_7952insACT	XP_016865249.1:p.Arg2651HisfsTer2
XM_017009761.2:c.7951_7952insACT	XP_016865250.1:p.Arg2651HisfsTer2
XM_017009763.1:c.7147_7148insACT	XP_016865252.1:p.Arg2383HisfsTer2
XM_017009765.1:c.6952_6953insACT	XP_016865254.1:p.Arg2318HisfsTer2
XM_017009766.1:c.4783_4784insACT	XP_016865255.1:p.Arg1595HisfsTer2
XM_024446183.1:c.7951_7952insACT	XP_024301951.1:p.Arg2651HisfsTer2
XM_024446184.1:c.7822_7823insACT	XP_024301952.1:p.Arg2608HisfsTer2
XM_024446185.1:c.7468_7469insACT	XP_024301953.1:p.Arg2490HisfsTer2
XM_024446186.1:c.7147_7148insACT	XP_024301954.1:p.Arg2383HisfsTer2
XR_001742208.1:n.8309_8310insACT
XR_002956171.1:n.8255_8256insACT
XR_925644.2:n.8364_8365insACT
NM_001384732.1:c.8140_8141insACT MANE Select	NP_001371661.1:p.Arg2714HisfsTer2
NM_023073.4:c.7978_7979insACT	NP_075561.3:p.Arg2660HisfsTer2