Canonical Allele Identifier: CA2765914100

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153986_37153991del , CM000667.2:g.37153986_37153991del	GRCh38
NC_000005.9:g.37154088_37154093del , CM000667.1:g.37154088_37154093del	GRCh37
NC_000005.8:g.37189845_37189850del	NCBI36
NG_032772.1:g.100438_100443del
NG_032772.2:g.100438_100443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1121_1126del
ENST00000651892.2:c.8122_8127del MANE Select	ENSP00000498265.2:p.Leu2708_Pro2709del
ENST00000425232.6:c.7960_7965del	ENSP00000389014.2:p.Leu2654_Pro2655del
ENST00000508244.5:c.7960_7965del	ENSP00000421690.1:p.Leu2654_Pro2655del
ENST00000509849.5:c.5134_5139del	ENSP00000426337.1:p.Leu1712_Pro1713del
ENST00000509957.5:n.364_369del
ENST00000511210.5:n.413_418del
ENST00000511824.2:c.1236_1241del
ENST00000514429.5:c.5158_5163del	ENSP00000424223.1:p.Leu1720_Pro1721del
ENST00000515380.1:n.374_379del
NM_023073.3:c.7960_7965del	NP_075561.3:p.Leu2654_Pro2655del
XM_005248345.2:c.8122_8127del	XP_005248402.1:p.Leu2708_Pro2709del
XM_005248346.2:c.8119_8124del	XP_005248403.1:p.Leu2707_Pro2708del
XM_005248347.2:c.8119_8124del	XP_005248404.1:p.Leu2707_Pro2708del
XM_005248349.2:c.8011_8016del	XP_005248406.1:p.Leu2671_Pro2672del
XM_005248350.2:c.7993_7998del	XP_005248407.1:p.Leu2665_Pro2666del
XM_005248353.3:c.4765_4770del	XP_005248410.1:p.Leu1589_Pro1590del
XM_006714489.2:c.8122_8127del	XP_006714552.1:p.Leu2708_Pro2709del
XM_006714491.2:c.2695_2700del	XP_006714554.1:p.Leu899_Pro900del
XM_011514085.1:c.8122_8127del	XP_011512387.1:p.Leu2708_Pro2709del
XM_011514086.1:c.8122_8127del	XP_011512388.1:p.Leu2708_Pro2709del
XM_011514087.1:c.8068_8073del	XP_011512389.1:p.Leu2690_Pro2691del
XM_011514088.1:c.8014_8019del	XP_011512390.1:p.Leu2672_Pro2673del
XM_011514089.1:c.8122_8127del	XP_011512391.1:p.Leu2708_Pro2709del
XM_011514090.1:c.7804_7809del	XP_011512392.1:p.Leu2602_Pro2603del
XM_011514091.1:c.7450_7455del	XP_011512393.1:p.Leu2484_Pro2485del
XM_011514092.1:c.8122_8127del	XP_011512394.1:p.Leu2708_Pro2709del
XM_011514094.1:c.5347_5352del	XP_011512396.1:p.Leu1783_Pro1784del
XR_427661.2:n.8297_8302del
XR_925644.1:n.8297_8302del
XM_005248345.4:c.8122_8127del	XP_005248402.1:p.Leu2708_Pro2709del
XM_005248346.4:c.8119_8124del	XP_005248403.1:p.Leu2707_Pro2708del
XM_005248347.4:c.8119_8124del	XP_005248404.1:p.Leu2707_Pro2708del
XM_005248349.4:c.8011_8016del	XP_005248406.1:p.Leu2671_Pro2672del
XM_005248350.4:c.7993_7998del	XP_005248407.1:p.Leu2665_Pro2666del
XM_006714491.3:c.2695_2700del	XP_006714554.1:p.Leu899_Pro900del
XM_011514085.3:c.8122_8127del	XP_011512387.1:p.Leu2708_Pro2709del
XM_011514086.3:c.8122_8127del	XP_011512388.1:p.Leu2708_Pro2709del
XM_011514087.2:c.8068_8073del	XP_011512389.1:p.Leu2690_Pro2691del
XM_011514088.2:c.8014_8019del	XP_011512390.1:p.Leu2672_Pro2673del
XM_011514089.2:c.8122_8127del	XP_011512391.1:p.Leu2708_Pro2709del
XM_011514090.3:c.7804_7809del	XP_011512392.1:p.Leu2602_Pro2603del
XM_011514092.2:c.8122_8127del	XP_011512394.1:p.Leu2708_Pro2709del
XM_011514094.2:c.5347_5352del	XP_011512396.1:p.Leu1783_Pro1784del
XM_017009760.1:c.7933_7938del	XP_016865249.1:p.Leu2645_Pro2646del
XM_017009761.2:c.7933_7938del	XP_016865250.1:p.Leu2645_Pro2646del
XM_017009763.1:c.7129_7134del	XP_016865252.1:p.Leu2377_Pro2378del
XM_017009765.1:c.6934_6939del	XP_016865254.1:p.Leu2312_Pro2313del
XM_017009766.1:c.4765_4770del	XP_016865255.1:p.Leu1589_Pro1590del
XM_024446183.1:c.7933_7938del	XP_024301951.1:p.Leu2645_Pro2646del
XM_024446184.1:c.7804_7809del	XP_024301952.1:p.Leu2602_Pro2603del
XM_024446185.1:c.7450_7455del	XP_024301953.1:p.Leu2484_Pro2485del
XM_024446186.1:c.7129_7134del	XP_024301954.1:p.Leu2377_Pro2378del
XR_001742208.1:n.8291_8296del
XR_002956171.1:n.8237_8242del
XR_925644.2:n.8346_8351del
NM_001384732.1:c.8122_8127del MANE Select	NP_001371661.1:p.Leu2708_Pro2709del
NM_023073.4:c.7960_7965del	NP_075561.3:p.Leu2654_Pro2655del