Canonical Allele Identifier: CA2765914093

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153768_37153776del , CM000667.2:g.37153768_37153776del	GRCh38
NC_000005.9:g.37153870_37153878del , CM000667.1:g.37153870_37153878del	GRCh37
NC_000005.8:g.37189627_37189635del	NCBI36
NG_032772.1:g.100653_100661del
NG_032772.2:g.100653_100661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1336_1344del
ENST00000651892.2:c.8337_8345del MANE Select	ENSP00000498265.2:p.Pro2780_Pro2782del
ENST00000425232.6:c.8175_8183del	ENSP00000389014.2:p.Pro2726_Pro2728del
ENST00000508244.5:c.8175_8183del	ENSP00000421690.1:p.Pro2726_Pro2728del
ENST00000508405.1:n.69_77del
ENST00000509849.5:c.5349_5357del	ENSP00000426337.1:p.Pro1784_Pro1786del
ENST00000509957.5:n.579_587del
ENST00000511824.2:c.1451_1459del
ENST00000514429.5:c.5373_5381del	ENSP00000424223.1:p.Pro1792_Pro1794del
NM_023073.3:c.8175_8183del	NP_075561.3:p.Pro2726_Pro2728del
XM_005248345.2:c.8337_8345del	XP_005248402.1:p.Pro2780_Pro2782del
XM_005248346.2:c.8334_8342del	XP_005248403.1:p.Pro2779_Pro2781del
XM_005248347.2:c.8334_8342del	XP_005248404.1:p.Pro2779_Pro2781del
XM_005248349.2:c.8226_8234del	XP_005248406.1:p.Pro2743_Pro2745del
XM_005248350.2:c.8208_8216del	XP_005248407.1:p.Pro2737_Pro2739del
XM_005248353.3:c.4980_4988del	XP_005248410.1:p.Pro1661_Pro1663del
XM_006714489.2:c.8337_8345del	XP_006714552.1:p.Pro2780_Pro2782del
XM_006714491.2:c.2910_2918del	XP_006714554.1:p.Pro971_Pro973del
XM_011514085.1:c.8337_8345del	XP_011512387.1:p.Pro2780_Pro2782del
XM_011514086.1:c.8337_8345del	XP_011512388.1:p.Pro2780_Pro2782del
XM_011514087.1:c.8283_8291del	XP_011512389.1:p.Pro2762_Pro2764del
XM_011514088.1:c.8229_8237del	XP_011512390.1:p.Pro2744_Pro2746del
XM_011514089.1:c.8337_8345del	XP_011512391.1:p.Pro2780_Pro2782del
XM_011514090.1:c.8019_8027del	XP_011512392.1:p.Pro2674_Pro2676del
XM_011514091.1:c.7665_7673del	XP_011512393.1:p.Pro2556_Pro2558del
XM_011514092.1:c.8337_8345del	XP_011512394.1:p.Pro2780_Pro2782del
XM_011514094.1:c.5562_5570del	XP_011512396.1:p.Pro1855_Pro1857del
XR_427661.2:n.8512_8520del
XR_925644.1:n.8512_8520del
XM_005248345.4:c.8337_8345del	XP_005248402.1:p.Pro2780_Pro2782del
XM_005248346.4:c.8334_8342del	XP_005248403.1:p.Pro2779_Pro2781del
XM_005248347.4:c.8334_8342del	XP_005248404.1:p.Pro2779_Pro2781del
XM_005248349.4:c.8226_8234del	XP_005248406.1:p.Pro2743_Pro2745del
XM_005248350.4:c.8208_8216del	XP_005248407.1:p.Pro2737_Pro2739del
XM_006714491.3:c.2910_2918del	XP_006714554.1:p.Pro971_Pro973del
XM_011514085.3:c.8337_8345del	XP_011512387.1:p.Pro2780_Pro2782del
XM_011514086.3:c.8337_8345del	XP_011512388.1:p.Pro2780_Pro2782del
XM_011514087.2:c.8283_8291del	XP_011512389.1:p.Pro2762_Pro2764del
XM_011514088.2:c.8229_8237del	XP_011512390.1:p.Pro2744_Pro2746del
XM_011514089.2:c.8337_8345del	XP_011512391.1:p.Pro2780_Pro2782del
XM_011514090.3:c.8019_8027del	XP_011512392.1:p.Pro2674_Pro2676del
XM_011514092.2:c.8337_8345del	XP_011512394.1:p.Pro2780_Pro2782del
XM_011514094.2:c.5562_5570del	XP_011512396.1:p.Pro1855_Pro1857del
XM_017009760.1:c.8148_8156del	XP_016865249.1:p.Pro2717_Pro2719del
XM_017009761.2:c.8148_8156del	XP_016865250.1:p.Pro2717_Pro2719del
XM_017009763.1:c.7344_7352del	XP_016865252.1:p.Pro2449_Pro2451del
XM_017009765.1:c.7149_7157del	XP_016865254.1:p.Pro2384_Pro2386del
XM_017009766.1:c.4980_4988del	XP_016865255.1:p.Pro1661_Pro1663del
XM_024446183.1:c.8148_8156del	XP_024301951.1:p.Pro2717_Pro2719del
XM_024446184.1:c.8019_8027del	XP_024301952.1:p.Pro2674_Pro2676del
XM_024446185.1:c.7665_7673del	XP_024301953.1:p.Pro2556_Pro2558del
XM_024446186.1:c.7344_7352del	XP_024301954.1:p.Pro2449_Pro2451del
XR_001742208.1:n.8506_8514del
XR_002956171.1:n.8452_8460del
XR_925644.2:n.8561_8569del
NM_001384732.1:c.8337_8345del MANE Select	NP_001371661.1:p.Pro2780_Pro2782del
NM_023073.4:c.8175_8183del	NP_075561.3:p.Pro2726_Pro2728del